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 Protoporphyria is generally inherited as an autosomal dominant disorder.

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

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

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

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

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

8 rathyroidism-jaw tumor (HPT-JT) syndrome, an 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 1 (NF1) is one of the most common heritable autosomal dominant disorders.

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

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

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

16 ons of PTEN have been detected in three rare 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 al diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutat

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

90 Erythromelalgia is an autosomal dominant disorder characterized by burning pai

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

106 16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophi

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

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

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

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

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

112 Apert syndrome is an autosomal dominant disorder characterized by malformatio

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

190 We now characterize an autosomal dominant disorder involving dilated cardiomyop

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

215 Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development,

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

234 Autosomal dominant disorders of the skin may present in

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

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

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

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

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

240 Because another autosomal dominant disorder, proximal symphalangism, sha

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

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

243 ave evaluated the 4q25-4q26 region where the autosomal dominant disorder Rieger syndrome has been pre

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

273 In the autosomal dominant disorder type I hereditary angioedema

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

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

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

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

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

279 Modeled as an autosomal dominant disorder with 80% penetrance, a maxim

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

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

282 7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence

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

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

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

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

287 The LS is an autosomal dominant disorder with pleomorphic development

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

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

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

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

292 It is an autosomal dominant disorder with variable clinical manif

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

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

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

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

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

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