ライフサイエンスコーパス: autosomal dominant disorder

1 gene are responsible for Rieger syndrome, an autosomal dominant disorder.

2 rathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant disorder.

3 Protoporphyria is generally inherited as an autosomal dominant disorder.

4 as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder.

5 ff-Parkinson-White syndrome segregated as an autosomal dominant disorder.

6 matosis type 1 (NF1) is a commonly inherited autosomal dominant disorder.

7 ple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder.

8 NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder.

9 ted individuals, with ARVD segregating as an autosomal-dominant disorder.

10 s with middle-age-onset was segregated as an autosomal-dominant disorder.

11 inflammation in a pattern that suggested an autosomal-dominant disorder.

12 ix different genes as components of distinct autosomal dominant disorders.

13 1 (NF1) is one of the most common heritable autosomal dominant disorders.

14 ons of PTEN have been detected in three rare autosomal-dominant disorders.

15 a large number of human cancers and several autosomal-dominant disorders.

16 mentary approaches to exome-based mapping of autosomal-dominant disorders.

17 tations cause 80% of Cowden syndrome, a rare autosomal-dominant disorder (1 in 200,000 live births),

18 us syndrome type I (BPES; OMIM 110100) is an autosomal dominant disorder affecting craniofacial devel

19 ITX2 cause some cases of Rieger syndrome, an autosomal dominant disorder affecting eyes, teeth, and u

20 onsible for ulnar-mammary syndrome (UMS), an autosomal dominant disorder affecting limb, tooth, hair,

21 e form of palmoplantar keratoderma is a rare autosomal dominant disorder affecting palm and sole skin

22 X1B gene cause nail-patella syndrome, a rare autosomal-dominant disorder affecting the development of

23 family of transmembrane receptors, cause the autosomal dominant disorder Alagille syndrome.

24 lial cerebral cavernous angioma occurs as an autosomal dominant disorder, although carriers of the ge

25 OPMD is generally inherited as an autosomal dominant disorder and the polyalanine expansio

26 The main features of this autosomal dominant disorder are defects in hair, teeth,

27 iple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder associated mainly with tumor

28 Neurofibromatosis type 1 is a common autosomal dominant disorder associated with learning dis

29 Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder associated with mutations in

30 Classic osteogenesis imperfecta, an autosomal dominant disorder associated with osteoporosis

31 Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with premature ca

32 Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with recurrent ep

33 h predilection for the brachial plexus is an autosomal dominant disorder associated with recurrent, e

34 Cowden syndrome (CS) is an autosomal dominant disorder associated with the developm

35 Myotonic dystrophy type 1 is an autosomal dominant disorder associated with the expansio

36 on gene, this data strongly suggest that the autosomal dominant disorders associated with NOG mutatio

37 ocalized cutaneous amyloidosis (FPLCA) is an autosomal-dominant disorder associated with chronic skin

38 e with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developm

39 ysis has previously mapped the locus for the autosomal dominant disorder branchio-oto-renal syndrome

40 receptor gene FHH have been described as an autosomal dominant disorder, but recently milder mutatio

41 otch ligand jagged 1 result in a multisystem autosomal dominant disorder called Alagille syndrome, wh

42 Mutations in human EYA1 result in an autosomal dominant disorder called branchio-oto-renal (B

43 junction protein connexin43 (Cx43), cause an autosomal dominant disorder called oculodentodigital dys

44 that can present as components of the human autosomal dominant disorder Carney complex.

45 This region harbors the genes for two autosomal dominant disorders, Carney complex (CNC), a mu

46 Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder caused by a CAG repeat expan

47 imary early-onset generalized dystonia is an autosomal dominant disorder caused by a deletion (DeltaG

48 Despite being an autosomal dominant disorder caused by a known coding mut

49 al diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutat

50 Noonan syndrome (NS) is an autosomal dominant disorder caused by activating mutatio

51 most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a

52 Huntington's disease (HD) is an autosomal dominant disorder caused by an expansion of gl

53 el-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutat

54 pithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative

55 Spinocerebellar ataxia type 10 is an autosomal dominant disorder caused by expansion of a pen

56 Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutatio

57 CCM occurs either sporadically or as an autosomal dominant disorder caused by germline mutation

58 also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency

59 Neurofibromatosis type 1 (NF1), a common autosomal dominant disorder caused by loss of the NF1 ge

60 Tuberous sclerosis (TS) is a common autosomal dominant disorder caused by loss or malfunctio

61 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in eithe

62 Alagille syndrome is an autosomal dominant disorder caused by mutations in Notch

63 -temporal dementia (IBMPFD) is a progressive autosomal dominant disorder caused by mutations in p97/V

64 ohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disorder caused by mutations in the a

65 Darier's disease (DD) is an autosomal dominant disorder caused by mutations in the A

66 Familial amyloid polyneuropathy type I is an autosomal dominant disorder caused by mutations in the t

67 yopathy and Paget disease of bone is a rare, autosomal dominant disorder caused by mutations in the V

68 eafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the d

69 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by the expansion of a

70 Axenfeld-Rieger syndrome is an autosomal-dominant disorder caused by mutations in the P

71 Familial hypercholesterolaemia is a common autosomal-dominant disorder caused by mutations in three

72 Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the

73 Meesmann's corneal dystrophy (MCD) is an autosomal dominant disorder causing fragility of the ant

74 cold autoinflammatory syndrome (FCAS) is an autosomal dominant disorder characterised by recurrent e

75 Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the develop

76 atous polyposis (FAP) and attenuated FAP are autosomal dominant disorders characterised by multiple c

77 Noonan syndrome (NS) is an autosomal dominant disorder characterized by a wide spec

78 Alagille syndrome is an autosomal dominant disorder characterized by abnormal de

79 Tricho-dento-osseous syndrome (TDO) is an autosomal dominant disorder characterized by abnormal ha

80 Brachydactyly type C is an autosomal dominant disorder characterized by abnormal se

81 Huntington's disease (HD) is an autosomal dominant disorder characterized by abnormaliti

82 Tricho-dento-osseous (TDO) syndrome is an autosomal dominant disorder characterized by abnormaliti

83 skinesia and facial myokymia (FDFM), a novel autosomal dominant disorder characterized by adventitiou

84 Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormal

85 ectasia, or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized by angiodyspla

86 Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by ataxia, sei

87 Cowden syndrome (CS) is an autosomal dominant disorder characterized by benign and

88 Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial a

89 Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episo

90 , also known as primary erythermalgia, is an autosomal dominant disorder characterized by burning pai

91 Erythromelalgia is an autosomal dominant disorder characterized by burning pai

92 eredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts,

93 type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar

94 ting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital

95 ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital

96 Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disorder characterized by cutaneous f

97 Alagille syndrome (AGS) is an autosomal dominant disorder characterized by development

98 Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic

99 Rippling muscle disease (RMD) is an autosomal dominant disorder characterized by electricall

100 gn intraepithelial dyskeratosis (HBID) is an autosomal dominant disorder characterized by elevated ep

101 shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder characterized by epidermal t

102 kalemic periodic paralysis (HypoPP), a human autosomal dominant disorder characterized by episodic fa

103 Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by hamartomas

104 nderly branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by hearing los

105 ible for pseudohypoaldosteronism type II, an autosomal dominant disorder characterized by hypertensio

106 also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophi

107 16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophi

108 Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic

109 xercise-induced hyperinsulinism (EIHI) is an autosomal dominant disorder characterized by inappropria

110 Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by increased i

111 lentigines/LEOPARD syndrome (LS) is a rare, autosomal dominant disorder characterized by Lentigines,

112 Apert syndrome is an autosomal dominant disorder characterized by malformatio

113 called CHARGE syndrome, which is a sporadic, autosomal dominant disorder characterized by malformatio

114 Familial eosinophilia (FE) is an autosomal dominant disorder characterized by marked eosi

115 ipodystrophy (FPLD), Dunnigan variety, is an autosomal dominant disorder characterized by marked loss

116 Gorlin syndrome is an autosomal dominant disorder characterized by multiple ba

117 id basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder characterized by multiple BC

118 Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by multiple bo

119 nomatous polyposis (FAP), a highly penetrant autosomal dominant disorder characterized by multiple in

120 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations i

121 Alagille syndrome is an autosomal dominant disorder characterized by neonatal ja

122 hyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by occurrence

123 e gene responsible for the Char syndrome, an autosomal dominant disorder characterized by PDA, facial

124 Familial eosinophilia (FE) is an autosomal dominant disorder characterized by peripheral

125 Episodic ataxia and myokymia syndrome is an autosomal dominant disorder characterized by persistent

126 al neurohypophyseal diabetes insipidus is an autosomal dominant disorder characterized by post-natal

127 atients with familial juvenile polyposis, an autosomal dominant disorder characterized by predisposit

128 Multiple synostoses syndrome is an autosomal dominant disorder characterized by premature o

129 Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive

130 genous leukaemia (FPD/AML, MIM 601399) is an autosomal dominant disorder characterized by qualitative

131 or TSC2 cause tuberous sclerosis complex, an autosomal dominant disorder characterized by seizures, m

132 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, m

133 ous sclerosis complex (TSC) is a multisystem autosomal dominant disorder characterized by seizures, m

134 Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by seizures, m

135 Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineur

136 Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burn

137 Ehlers-Danlos VIII (EDS-VIII) is an autosomal dominant disorder characterized by severe earl

138 We describe a family with an autosomal dominant disorder characterized by severe trau

139 Albright hereditary osteodystrophy (AHO), an autosomal dominant disorder characterized by short statu

140 Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal mu

141 omatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-musc

142 -mammary syndrome (MIM 181450) in humans, an autosomal dominant disorder characterized by the absence

143 Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the develop

144 Cowden's disease is an autosomal dominant disorder characterized by the develop

145 on-polyposis colorectal cancer (HNPCC) is an autosomal dominant disorder characterized by the early o

146 Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formati

147 ndrome (hidrotic ectodermal dysplasia) is an autosomal dominant disorder characterized by the triad o

148 Familial hemiplegic migraine (FHM) is an autosomal dominant disorder characterized by transient h

149 Neurofibromatosis type 2 is an autosomal dominant disorder characterized by tumors, pre

150 ons in Tbx3 cause ulnar-mammary syndrome, an autosomal dominant disorder characterized by upper limb

151 cause branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by varying com

152 ral cavernous malformation (CCM) is a common autosomal dominant disorder characterized by venous sinu

153 athy is a clinically and genetically diverse autosomal dominant disorder characterized by ventricular

154 al sclerosis and with Perry syndrome, a rare autosomal dominant disorder characterized by weight loss

155 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread

156 sclerosis complex (TSC) is a relatively rare autosomal dominant disorder characterized by widespread

157 a family, 13 members were afflicted with an autosomal dominant disorder characterized by young age a

158 ariegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized clinically by

159 ) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinatio

160 l British and Danish dementia (FBD and FDD), autosomal dominant disorders characterized by progressiv

161 a phosphatase, occur in three related human autosomal dominant disorders characterized by tumor susc

162 due to KRT10 mutations is a rare, typically autosomal dominant, disorder characterized by generalize

163 syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex n

164 or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palat

165 Neurofibromatosis type 1 (NF1) is a common autosomal-dominant disorder characterized by cutaneous n

166 Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplas

167 syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and e

168 iodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset

169 Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder characterized by hamartomato

170 Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifeti

171 Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability o

172 Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepati

173 itary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder characterized by the age-dep

174 Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder characterized by the develop

175 Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presen

176 denburg syndrome type 2 (WS2A) in humans, an autosomal dominant disorder consisting of deafness and h

177 e mutations are found in three related human autosomal dominant disorders, Cowden disease (CD), Lherm

178 f the human MSX2 gene is associated with the autosomal dominant disorder craniosynostosis, Boston typ

179 pseudohypoaldosteronism type II (PHAII), an autosomal dominant disorder featuring hypertension, hype

180 gles and through mutations linking it to the autosomal dominant disorder frontotemporal dementia with

181 Patients with this autosomal dominant disorder have a shortened life expect

182 breast and ovarian tumorigenesis and in the autosomal dominant disorders hereditary neuralgic amyotr

183 Thus, vbg provides a model for the human autosomal dominant disorder, hereditary hemorrhagic tela

184 Schnyder corneal dystrophy (SCD) is an autosomal dominant disorder in humans characterized by a

185 reditary cystatin C amyloid angiopathy is an autosomal dominant disorder in which a variant form of c

186 /Best disease; MIM*153700) is an early-onset autosomal dominant disorder in which accumulation of lip

187 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which affected individual

188 lantar keratoderma (EPPK, MIM #144200) is an autosomal dominant disorder in which hyperkeratosis conf

189 Dentine dysplasia type II is an autosomal dominant disorder in which mineralization of t

190 atients with nevoid BCC syndrome (NBCCS), an autosomal dominant disorder in which patients inherit a

191 Neurofibromatosis type 1 is a common autosomal dominant disorder (incidence 1:3500) character

192 Rieger syndrome, an autosomal dominant disorder, includes ocular, craniofaci

193 Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder involving aberrant prolifera

194 We now characterize an autosomal dominant disorder involving dilated cardiomyop

195 disturbances, associated parkinsonism, or an autosomal dominant disorder is present.

196 Myotonic dystrophy, a progressive autosomal dominant disorder, is associated with an expan

197 venile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder, is caused by mutations in t

198 ltiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder, is characterised by the occ

199 Progressive osseous heteroplasia (POH), an autosomal dominant disorder, is characterized by extensi

200 Brachydactyly type B (BDB), an autosomal dominant disorder, is the most severe of the b

201 CHARGE syndrome, a multisystem autosomal-dominant disorder, is caused by CHD7 mutations

202 f exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM%14792

203 ous familial hypercholesterolemia (FH) is an autosomal dominant disorder known to be associated with

204 s familial hypercholesterolemia (HeFH) is an autosomal dominant disorder leading to premature atheros

205 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder leading to the widespread de

206 apulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of th

207 f early onset, are familial and inherited as autosomal dominant disorders linked to the presence of m

208 rsion dystonia (AOPTD) is a poorly penetrant autosomal dominant disorder; most gene carriers are non-

209 ranslated region of the DMPK gene causes the autosomal dominant disorder myotonic dystrophy.

210 Marfan syndrome is an autosomal dominant disorder of connective tissue caused

211 Marfan syndrome is an autosomal dominant disorder of connective tissue that af

212 Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused

213 N1 mutations cause Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue.

214 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development

215 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development

216 Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development

217 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development,

218 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development that r

219 ene mutated in Treacher Collins syndrome, an autosomal dominant disorder of facial development, has r

220 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of human craniofacial develo

221 seudohypoaldosteronism type II (PHAII) is an autosomal dominant disorder of hyperkalemia and hyperten

222 Beckwith-Wiedemann syndrome (BWS) is an autosomal dominant disorder of increased prenatal growth

223 lopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly

224 obetalipoproteinemia (FHBL) is an apparently autosomal dominant disorder of lipid metabolism characte

225 a (HHT), or Rendu-Osler-Weber disease, is an autosomal dominant disorder of localized angiodysplasia,

226 editary hemorrhagic telangiectasia (HHT), an autosomal dominant disorder of localized angiodysplasia.

227 Canine Spinal Muscular Atrophy (HCSMA) is an autosomal dominant disorder of motor neurons that shares

228 lasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations an

229 al features of the Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular microfi

230 ebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin chara

231 Distinct FGFR mutations in individuals with autosomal dominant disorders of bone growth and developm

232 are a clinically heterogeneous group of rare autosomal dominant disorders of cornification with overl

233 e-Chotzen syndrome is one of the most common autosomal dominant disorders of craniosynostosis in huma

234 tations have been found in patients with two autosomal dominant disorders of joint development, multi

235 wth factor receptor (FGFR) family as causing autosomal dominant disorders of skeletal and cranial dev

236 Autosomal dominant disorders of the skin may present in

237 s progressiva (FOP) is a severely disabling, autosomal-dominant disorder of connective tissue and is

238 ogenesis imperfecta type III (DGI-III) is an autosomal-dominant disorder of dentin formation which ap

239 Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associa

240 Cowden syndrome (CS), a Mendelian autosomal-dominant disorder, predisposes to breast, thyr

241 VHL syndrome is an autosomal dominant disorder predisposing to the developm

242 Because another autosomal dominant disorder, proximal symphalangism, sha

243 Myotonic dystrophy (DM) is an autosomal dominant disorder resulting from the expansion

244 Hereditary coproporphyria is an autosomal dominant disorder resulting from the half-norm

245 A number of autosomal dominant disorders show a dramatic paternal ag

246 ave been shown to underlie some cases of the autosomal dominant disorder, striate palmoplantar kerato

247 ) gene in humans are associated with several autosomal dominant disorders such as proximal symphalang

248 ene cause of congenital heart disease, is an autosomal dominant disorder that also features proportio

249 Long QT syndrome (LQT) is an autosomal dominant disorder that can cause sudden death

250 es-Brocks syndrome (TBS, OMIM #107480) is an autosomal dominant disorder that causes multiple birth d

251 Tuberous sclerosis complex is an autosomal dominant disorder that causes significant comp

252 Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as

253 ial primary pulmonary hypertension is a rare autosomal dominant disorder that has reduced penetrance

254 Noonan syndrome (NS) is an autosomal dominant disorder that is associated with mult

255 Tuberous sclerosis (TS) is a multi-organ autosomal dominant disorder that is best characterized b

256 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is characterized by ben

257 We now report a large pedigree with an autosomal dominant disorder that is clinically similar t

258 ital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically relat

259 ital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically simil

260 Cherubism is an autosomal dominant disorder that may be related to tooth

261 Cowden syndrome (CS) is an autosomal dominant disorder that predisposes to breast,

262 yndrome (NBCCS), or Gorlin's syndrome, is an autosomal dominant disorder that predisposes to developm

263 ariegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial de

264 iple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder that results in parathyroid,

265 Craniosynostosis, Boston type is an autosomal dominant disorder that results in the prematur

266 notypically and genetically diverse group of autosomal dominant disorders that cause pathological deg

267 hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in

268 ntodigital syndrome (ODD) is a rare, usually autosomal-dominant disorder that is characterized by dev

269 Hereditary sensory neuropathy type 1 is an autosomal-dominant disorder that leads to a sensory neur

270 Huntington's disease (HD), an autosomal dominant disorder triggered by misfolding of h

271 ed a family in which three siblings with the autosomal dominant disorder tuberous sclerosis had unaff

272 Mutation in either TSC1 or TSC2 causes the autosomal dominant disorder tuberous sclerosis, in which

273 HARGE syndrome (CS, OMIM #214800) is a rare, autosomal dominant disorder, two-thirds of which are cau

274 Gorlin syndrome (GS) is an autosomal dominant disorder wherein affected individuals

275 dentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the developmen

276 Malignant hyperthermia (MH) is an autosomal dominant disorder which is potentially lethal

277 with liability to pressure palsies, another autosomal dominant disorder which maps to chromosome 17p

278 Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder whose neurodevelopmental sym

279 most common genetic form of dwarfism, is an autosomal dominant disorder whose underlying mechanism i

280 Pachyonychia congenita (PC) is a group of autosomal dominant disorders whose most prominent phenot

281 Neurofibromatosis type I (NF1) is a common autosomal dominant disorder with a broad array of clinic

282 eyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder with a similar but milder ph

283 7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence

284 generation family with DA1 segregating as an autosomal dominant disorder with complete penetrance.

285 s the gene mutated in Holt-Oram syndrome, an autosomal dominant disorder with complex heart and limb

286 It is inherited as an autosomal dominant disorder with homozygotes having a mo

287 Hereditary isolated congenital ptosis is an autosomal dominant disorder with incomplete penetrance c

288 The LS is an autosomal dominant disorder with pleomorphic development

289 atase SHP-2, causes Noonan syndrome (NS), an autosomal dominant disorder with pleomorphic development

290 Familial PPH (FPPH) segregates as an autosomal dominant disorder with reduced penetrance and

291 ene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and c

292 ate-onset retinal degeneration (L-ORD) is an autosomal dominant disorder with striking clinical and p

293 It is an autosomal dominant disorder with variable clinical manif

294 d hereditary haemorrhagic telangiectasia are autosomal dominant disorders with distinct and non-overl

295 Hereditary pancreatitis (HP) is an autosomal-dominant disorder with incomplete penetrance c

296 aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening

297 Hereditary pancreatitis (HP) is a heritable, autosomal-dominant disorder with recurrent acute pancrea

298 gue a candidate gene for Rieger syndrome, an autosomal-dominant disorder with variable craniofacial,

299 p63(-/-) mice and analysis of several human autosomal-dominant disorders with germ line p63 mutation

300 s (h-IBMs) designates autosomal-recessive or autosomal-dominant disorders with muscle biopsies cytopa