ライフサイエンスコーパス: autosomal recessive

1 Inheritance is either autosomal dominant or autosomal recessive.

2 ablished in neurodevelopmental disorders (46 autosomal recessive, 2 X-linked, and 2 de novo) or in 7

3 the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs.

4 he cerebellar ataxia spinocerebellar ataxia, autosomal recessive 20 (SCAR20)-associated protein Snx14

5 dney failure in a Col4a3(-/-) mouse model of autosomal recessive Alport syndrome and increased protei

6 Disease-causing variants were found in 18 autosomal recessive and 4 autosomal dominant families.

7 It initially cataloged the known X-linked, autosomal recessive and autosomal dominant inherited dis

8 e suggest that current AI cohorts, both with autosomal recessive and dominant disease, be screened fo

9 bout 3% of hitherto genetically unclassified autosomal recessive and sporadic cases; and (ii) hypomye

10 to study clinical and genetic aspects of the autosomal recessive (AR) form of CSNB.

11 Autosomal recessive (AR) gene defects are the leading ge

12 ts, present within 187 genes associated with autosomal recessive (AR) inherited retinal diseases (IRD

13 We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy lea

14 Paraneoplastic retinopathy and autosomal recessive bestrophinopathy closely resemble AE

15 participants with ocular disease (amblyopia, autosomal recessive bestrophinopathy, premature birth) h

16 Fowler syndrome is a rare autosomal recessive brain vascular disorder caused by mu

17 LP or P mutation in 39 genes associated with autosomal-recessive cancer susceptibility.

18 ular tachycardia type 2 (CPVT2) results from autosomal recessive CASQ2 mutations, causing abnormal Ca

19 feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ).

20 Thus, autosomal recessive CD70 deficiency is a novel cause of

21 a mutation has recently been found to cause autosomal recessive cerebellar ataxia and intellectual d

22 rithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts.

23 orithm, and a patient's total score for each autosomal recessive cerebellar ataxia is calculated, pro

24 bellar ataxia Type 5 and spectrin-associated autosomal recessive cerebellar ataxia Type 1 pathology l

25 ellar ataxia Type 5, and spectrin-associated autosomal recessive cerebellar ataxia Type 1, but molecu

26 ficity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding

27 t of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia.

28 d following a review of the literature on 67 autosomal recessive cerebellar ataxias and personal clin

29 Differential diagnosis of autosomal recessive cerebellar ataxias can be challengin

30 cerebellar ataxia type 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, iso

31 icting the underlying molecular diagnoses of autosomal recessive cerebellar ataxias, thereby guiding

32 ed with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Ma

33 Autosomal-recessive cerebellar hypoplasia and ataxia con

34 A novel autosomal recessive cerebro-renal syndrome was identifie

35 Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy affecting multiple organs

36 h the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy.

37 ric CMT2A population (autosomal dominant and autosomal recessive CMT2A grouped together), the CMT Ped

38 hort study of 196 patients with dominant and autosomal recessive CMT2A, we present an in-depth genoty

39 FCHO1 deficiency is a novel autosomal recessive combined immune deficiency with impa

40 oblast phenotypes are rescued with WT IFNAR1 Autosomal recessive, complete IFNAR1 deficiency can resu

41 ing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia

42 Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the

43 Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of U

44 MMS is an autosomal recessive condition described thus far in only

45 In horses, the autosomal recessive condition known as Glycogen Branchin

46 e Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by cr

47 Grange syndrome is an autosomal-recessive condition characterized by severe an

48 ult-onset conditions, and carrier status for autosomal-recessive conditions.

49 al recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however,

50 dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two w

51 liary G-protein Rab28, associated with human autosomal recessive cone-rod dystrophy, negatively regul

52 ain(s) uncertain, is absent in patients with autosomal recessive congenital ichthyoses with mutations

53 cornified envelopes are attenuated in these autosomal recessive congenital ichthyoses, the CLE may a

54 llar bodies are defective in lipid-synthetic autosomal recessive congenital ichthyoses; and (v) lipox

55 Autosomal recessive congenital ichthyosis (ARCI) is a di

56 transform into lamellar membranes in certain autosomal recessive congenital ichthyosis epidermis, sug

57 PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and

58 Autosomal recessive congenital ichthyosis is a heterogen

59 be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin

60 pholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mecha

61 ADAMTSL2 mutations cause an autosomal recessive connective tissue disorder, geleophy

62 D both in autosomal recessive RP (23.4%) and autosomal recessive CORD (9.9%) in the Japanese populati

63 type 1.3 (CaV1.3) and is defective in human autosomal-recessive deafness 93 (DFNB93).

64 rent phenotypic consequences for a recurrent autosomal-recessive deletion mutation in revealing the g

65 Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fuma

66 Ataxia-telangiectasia (A-T) is an autosomal recessive disease caused by mutation of the AT

67 yridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the A

68 Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the C

69 Cystic fibrosis is an autosomal recessive disease caused by mutations in the C

70 Here we report a novel autosomal recessive disease characterized by absent B ce

71 syndrome (GAMOS), a clinically heterogeneous autosomal recessive disease characterized by early-onset

72 An autosomal recessive disease was found in 62.9% of patien

73 Cystic fibrosis (CF) is a familial autosomal recessive disease, caused by genetic diversity

74 Cystic fibrosis (CF) is a life-threatening autosomal recessive disease, caused by mutations in the

75 , caused by mutations of the WRN gene, is an autosomal recessive disease, which is characterized by p

76 had X-linked disease, and 67.2% (n = 45) had autosomal recessive disease.

77 cogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucos

78 Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combina

79 Autosomal recessive diseases, such as cystic fibrosis (C

80 Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused

81 Cystic fibrosis (CF) is an autosomal recessive disorder affecting the cystic fibros

82 efects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutati

83 Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the

84 Farber disease is a rare autosomal recessive disorder caused by acid ceramidase d

85 sporter Deficiency Syndrome (DTDS) is a rare autosomal recessive disorder caused by loss-of-function

86 Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the

87 testinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP

88 Achromatopsia is an autosomal recessive disorder characterized by cone photo

89 Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloder

90 rophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressiv

91 lo-meta-epiphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by short stat

92 Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-as

93 Cockayne syndrome is an autosomal recessive disorder principally characterized b

94 es in lysosomes, causing Gaucher disease, an autosomal recessive disorder that displays profound geno

95 Surfactant protein B (SP-B) deficiency is an autosomal recessive disorder that impairs surfactant hom

96 s, presenting with a previously unrecognized autosomal recessive disorder that included a severe form

97 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid

98 uropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutati

99 Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the

100 Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloder

101 Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by severe, of

102 Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stat

103 Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme defici

104 Zellweger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects

105 utant allele might also play a role in other autosomal-recessive disorders, in which only one heteroz

106 s work is to identify the molecular cause of autosomal recessive early onset retinal degeneration in

107 an kinase PINK1 (hPINK1) are associated with autosomal recessive early-onset Parkinson's disease (PD)

108 an E3 ubiquitin ligase, are associated with autosomal recessive early-onset Parkinson's disease (PD)

109 Parkin is associated with autosomal recessive early-onset PD, and controls the tra

110 tein GANP, encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neuropathy wi

111 esis for the pigmentary changes in this rare autosomal recessive EBS subtype.

112 syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extr

113 Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic path

114 phenotypic spectrum of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal d

115 r data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy.

116 Autosomal recessive erythropoietic protoporphyria (EPP)

117 haly, and various facial dysmorphisms, in an autosomal-recessive fashion.

118 variants in calsequestrin-2 (CASQ2) cause an autosomal recessive form of catecholaminergic polymorphi

119 ic loss-of-function mutations in EXPH5 in an autosomal recessive form of epidermolysis bullosa simple

120 cator of cytokinesis 8 (DOCK8) gene cause an autosomal recessive form of hyper-IgE syndrome, characte

121 ning protein 14), that cause a nonsyndromic, autosomal recessive form of intellectual disability.

122 ent a family with two siblings displaying an autosomal recessive form of NS with massive hypertrophic

123 ion mutations in DJ-1 were found to cause an autosomal recessive form of Parkinson's disease.

124 naldehyde-binding protein (CRALBP), cause an autosomal recessive form of retinal degeneration.

125 The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or co

126 Reticular dysgenesis is an autosomal recessive form of severe combined immunodefici

127 ing our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collab

128 itochondrial proteins has been implicated in autosomal recessive forms of optic atrophy that involve

129 ssic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations.

130 llelic variants detected in only 6 different autosomal recessive genes explained 50% of the cases cha

131 Hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder with increased inte

132 Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest preva

133 Autosomal recessive genetic forms (DFNB) account for mos

134 Kindler syndrome is an autosomal recessive genodermatosis that results from mut

135 These are the first reported cases of autosomal-recessive germline TET2 deficiency in humans,

136 in AP-4 subunits cause a complicated form of autosomal-recessive hereditary spastic paraplegia termed

137 K8 protein is potentially a life-threatening autosomal recessive HIES and only curable with bone marr

138 ors for degradation, are the likely cause of autosomal recessive HSP in four unrelated families and f

139 enital tufting enteropathy (CTE) is a severe autosomal recessive human diarrheal disorder with charac

140 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES).

141 in was dependent on AP-1B and its coadaptor, autosomal recessive hypercholesterolemia protein (ARH),

142 on disease characterized by a non-BS, non-GS autosomal recessive hypokalemic-alkalotic salt-losing ph

143 ification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predomi

144 In addition to reporting a complete autosomal recessive IFN-gamma receptor 1-deficient patie

145 The autosomal recessive immunodeficiency, centromeric instab

146 We report for the first time an autosomal recessive inborn error of de novo purine synth

147 Propionic acidemia is a rare autosomal recessive inborn error of metabolism caused by

148 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism character

149 of other populations, mainly a high rate of autosomal recessive inheritance and a unique composition

150 isease causing variants following a model of autosomal recessive inheritance led to the identificatio

151 ally diverse macular dystrophy caused by the autosomal recessive inheritance of mutations in ABCA4.

152 Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary bea

153 Assuming autosomal recessive inheritance, we identify 27 genes th

154 ected 15 HMN/CMT2 families with evidence for autosomal recessive inheritance, who had tested negative

155 ognizable lethal syndromic polymicrogyria of autosomal recessive inheritance.

156 aused by choline transporter deficiency with autosomal recessive inheritance.

157 in this Iranian cohort were consistent with autosomal recessive inheritance.

158 Pedigree analysis suggested an autosomal recessive inheritance.

159 arly affected, deceased siblings, suggesting autosomal recessive inheritance.

160 Although an autosomal-recessive inheritance pattern has been hypothe

161 Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the

162 Gilbert syndrome (GS) is an autosomal recessive inherited disorder of bilirubin gluc

163 Autosomal recessive inherited neurodevelopmental disorde

164 ariants in the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), wit

165 ~1,600 years ago is the most common cause of autosomal recessive intellectual disability (ID) in Arab

166 identified as the cause of certain forms of autosomal-recessive intellectual disability (ID).

167 Autosomal-recessive juvenile Parkinsonism (AR-JP) is cau

168 ate that p.Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness synd

169 g protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), th

170 herited retinal diseases ranging from severe autosomal recessive Leber congenital amaurosis to later

171 n POPDC3 are responsible for a novel type of autosomal recessive limb girdle muscular dystrophy.

172 arcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LG

173 ncy is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8.

174 adenosine deaminase 2 (ADA2) activity due to autosomal-recessive loss-of-function mutations in the AD

175 Autosomal recessive LRBA risk alleles are associated wit

176 he direct cause of type IV mucolipidosis, an autosomal recessive lysosomal storage disease.

177 IIIB (MPS IIIB; Sanfilippo syndrome B) is an autosomal recessive lysosomal storage disorder caused by

178 stine transporter cystinosin-cause the rare, autosomal, recessive, lysosomal-storage disease cystinos

179 coding 11beta-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex s

180 e hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid me

181 that DYNC1I2 dysfunction probably causes an autosomal-recessive microcephaly syndrome and highlight

182 was developed and confirmed fully penetrant autosomal recessive mode of inheritance.

183 lasia with infantile nystagmus, following an autosomal recessive mode of inheritance.

184 Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by delet

185 iants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we sugg

186 Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized b

187 Exome sequencing identified an autosomal recessive mutation leading to an amino acid su

188 n canary (Serinus canaria), which carries an autosomal recessive mutation that renders its plumage pu

189 However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia m

190 In humans, autosomal recessive mutations in both genes cause simila

191 Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) caus

192 We identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kind

193 Autosomal recessive mutations in the galactosidase beta

194 Autosomal recessive mutations in the galactosidase beta1

195 The primary cause of KOS is autosomal recessive mutations in the gene UBE3B However,

196 ukodystrophy (GLD, Krabbe disease) is due to autosomal recessive mutations in the lysosomal enzyme ga

197 uropean populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) ge

198 In this study we demonstrate that (i) autosomal-recessive mutations in POLR3A are a frequent c

199 Brody disease is an autosomal recessive myopathy characterized by exercise-i

200 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior mi

201 Here, we report an unusual autosomal recessive neurodegenerative condition, best cl

202 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by

203 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by

204 Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder that caus

205 ons in three of four human VPS13 genes cause autosomal recessive neurodegenerative or neurodevelopmen

206 Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenerative and cardiac disord

207 SPG23 is an autosomal-recessive neurodegenerative subtype of lower l

208 iemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage

209 CLN3 Batten disease is an autosomal recessive, neurodegenerative, lysosomal storag

210 and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative

211 that pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting

212 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized

213 We report an early-onset autosomal-recessive neurological disease with cerebellar

214 Mutations in CSB are associated with the autosomal-recessive neurological disorder Cockayne syndr

215 affected with this clinically heterogeneous autosomal-recessive neurological disorder.

216 -2-Hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a

217 Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leadin

218 Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is cause

219 sly known disorder linked to C/EBPepsilon is autosomal recessive neutrophil-specific granule deficien

220 itis pigmentosa (RP), and also contribute to autosomal recessive non-syndromic RP.

221 ers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetyp

222 Mutations in the human Cc2d1a gene result in autosomal recessive nonsyndromic intellectual disability

223 und in 3 of 24 unrelated patients (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA)

224 Usher syndrome type 2 (USH2) (n = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (A

225 S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARN

226 l role of GFRA1-inactivating variants for an autosomal recessive, nonsyndromic form of BRA.

227 oxide, which determined that the patient had autosomal recessive NOS2 deficiency.

228 Alstrom syndrome (OMIM #203800) is an autosomal recessive obesity ciliopathy caused by loss-of

229 plicating CEP19, which is associated with an autosomal-recessive obesity syndrome when mutated, in th

230 d and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5%

231 Autosomal-recessive omodysplasia (OMOD1) is a genetic co

232 as now been identified as responsible for an autosomal recessive optic neuropathy from a Chinese cons

233 d all previously described GSDs segregate as autosomal recessive or X-linked traits.

234 perimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies i

235 Autosomal recessive osteopetrosis (ARO) is a heterogeneo

236 nt to rescue bone development in early-onset autosomal recessive osteopetrosis.

237 se parkin are the most common known cause of autosomal recessive Parkinson's disease (PD), and parkin

238 tions in the ubiquitin ligase, parkin, cause autosomal recessive Parkinson's disease, there is eviden

239 ubiquitin ligase, which is dysfunctional in autosomal recessive Parkinson's disease.

240 ciated genes occurred more frequently in the autosomal-recessive Parkinson's disease cohort (65 of 19

241 n, including 192 probands from families with autosomal-recessive Parkinson's disease, 242 probands fr

242 Autosomal recessive, partial GINS1 deficiency impairs DN

243 Here we report four autosomal-recessive pathogenic mutations in the gene enc

244 dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients).

245 mboembolic disease; the disorder followed an autosomal recessive pattern of inheritance.

246 , type IIA3 (OMIM #613211), which follows an autosomal recessive pattern of inheritance.

247 It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutat

248 nfirmed by segregation analysis resulting in autosomal recessive pediatric DCM due to presumptive JPH

249 een bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) an

250 Autosomal recessive polycystic kidney disease (ARPKD) an

251 l cystic epithelial cells from patients with autosomal recessive polycystic kidney disease (ARPKD) ha

252 Autosomal recessive polycystic kidney disease (ARPKD) is

253 Autosomal recessive polycystic kidney disease (ARPKD) is

254 platform, we establish an in vitro model of autosomal recessive polycystic kidney disease (ARPKD), t

255 Autosomal recessive polycystic kidney disease (ARPKD), u

256 or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or

257 -wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1

258 itulate the cystic phenotype associated with autosomal recessive polycystic kidney disease.

259 Here we describe an autosomal recessive presynaptic congenital myasthenic sy

260 This allows for emergence of many autosomal recessive primary immunodeficiency diseases.

261 Autosomal recessive primary microcephaly (MCPH) is a rar

262 nic brain and is mutated in individuals with autosomal recessive primary microcephaly.

263 sensory ataxia; ataxia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia

264 prcd (progressive rod-cone degeneration), an autosomal recessive progressive retinal atrophy (PRA) wi

265 F3B models as exemplified by an early-onset, autosomal-recessive, progressive retinal degeneration in

266 Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and auto

267 nd describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can

268 halmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod

269 ting for a high proportion of EYS-RD both in autosomal recessive RP (23.4%) and autosomal recessive C

270 nce was associated with RP progression, with autosomal recessive RP progressing at 148 mum/year and a

271 ominant RP and fastest for X-linked RP, with autosomal recessive RP progression rates between those o

272 nhancing protein 6, in several families with autosomal recessive RP.

273 nel beta 1 (CNGB1) cause approximately 4% of autosomal recessive RP.

274 s in M1AP are a relatively frequent cause of autosomal recessive severe spermatogenic failure and mal

275 ns cause cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia with growth failu

276 Ellis-van Creveld (EvC) syndrome is an autosomal-recessive skeletal dysplasia, characterized by

277 ima-type palmoplantar keratosis (NPPK) is an autosomal recessive skin disorder with a high, unmet med

278 The neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix Saguena

279 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguena

280 a large 520 kDa multidomain protein, causes autosomal recessive spastic ataxia of the Charlevoix-Sag

281 nd associated with the neurological disorder autosomal recessive spinocerebellar ataxia type 10 (SCAR

282 SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia cha

283 omal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephro

284 and meta-analysis of the natural history of autosomal recessive Stargardt disease (STGD1).

285 Cystinosis is a rare autosomal recessive storage disorder characterized by de

286 e-responsive megaloblastic anemia (TRMA), an autosomal recessive syndrome characterized by megaloblas

287 eterious UBQLN4 mutation in families with an autosomal recessive syndrome reminiscent of genome insta

288 underlying etiology of a previously unknown autosomal-recessive syndrome that combines replicative s

289 Our results demonstrate that an autosomal recessive, syndromic form of JRRP can be assoc

290 s-of-function mutations in PTPRJ that caused autosomal-recessive thrombocytopenia and a bleeding diso

291 through exome sequencing of 2 siblings with autosomal-recessive thrombocytopenia, we identified bial

292 describe here eight related individuals with autosomal recessive TIRAP deficiency.

293 Autosomal recessive TK2 mutations cause depletion and mu

294 ansmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically.

295 Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the

296 associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-

297 Autosomal-recessive variations of AP3B1, the ubiquitous

298 t 13 families (12 autosomal dominant and one autosomal recessive) with an anosmic form of IGD (Kallma

299 ptic atrophy (arNSOA) and in 8 patients with autosomal recessive Wolfram syndrome (arWS) associated w

300 in and ERIS, in a cohort of 12 patients with autosomal recessive WS, dominant WS and WS type 2.