ライフサイエンスコーパス: recessive

1 c disease, previously thought to be rare and recessive.

2 ral variants that are recessive or partially recessive.

3 ce is either autosomal dominant or autosomal recessive.

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

5 A fully penetrant recessive 4-bp deletion was identified in the DIRAS fami

6 eptibility, but even when inheritance is not recessive, abundant refuges of non-Bt host plants have s

7 We discovered that A673V mutation, the only recessive AD-associated APP mutation, shifted the prefer

8 strate the phenotypic expression of a lethal recessive allele in a wild population of conservation co

9 c mapping approaches, we show that the white recessive allele is due to a splice donor site mutation

10 low Milo, the progenitor genotypes where the recessive allele of dw2 originated.

11 eed variants and a historical model point to recessive alleles in B1, D and G loci being responsible,

12 Third, some purging of the deleterious recessive alleles that underpin interaction effects may

13 ty among subgenomes that mask the effects of recessive alleles.

14 f congenital hydrocephalus associated with 5 recessive alleles.

15 re in a Col4a3(-/-) mouse model of autosomal recessive Alport syndrome and increased proteinuria in C

16 cohorts, and a combined meta-analysis under recessive and additive models after adjusting for age, s

17 Here, we review our current understanding of recessive and dominant ARS-mediated disease.

18 The recessive and functionally null I/LnJ H2-Ob allele suppo

19 In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a

20 in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease.

21 0.58; 95% CI, 0.35-0.95; P < 0.05) under the recessive and overdominant inheritance models, respectiv

22 der of magnitude and facilitates recovery of recessive and phenotypically silent conditional mutation

23 hitherto genetically unclassified autosomal recessive and sporadic cases; and (ii) hypomyelination i

24 to distinguish between nsSNVs with dominant, recessive, and benign effects.

25 dle Muscular Dystrophies type 2I (LGMD2I), a recessive autosomal muscular dystrophy, is caused by mut

26 A BBC-resistant line carrying an unknown recessive b6 gene bears the same EBE as the susceptible

27 Paraneoplastic retinopathy and autosomal recessive bestrophinopathy closely resemble AEPVM, neces

28 usal of gray platelet syndrome (GPS), a rare recessive bleeding disorder characterized by platelets l

29 The white recessive breed of the common canary (Serinus canaria),

30 ons in feathers and several tissues of white recessive canaries, consistent with a genetic defect in

31 t in the predominant mutant isoform in white recessive canaries.

32 , and 2 de novo) or in 7 previously proposed recessive candidates.

33 cardia type 2 (CPVT2) results from autosomal recessive CASQ2 mutations, causing abnormal Ca(2+)-handl

34 performed whole exome sequencing to identify recessive causes of SRNS.

35 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ).

36 Thus, autosomal recessive CD70 deficiency is a novel cause of combined i

37 n has recently been found to cause autosomal recessive cerebellar ataxia and intellectual disability

38 assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts.

39 d a patient's total score for each autosomal recessive cerebellar ataxia is calculated, producing a r

40 xia Type 5 and spectrin-associated autosomal recessive cerebellar ataxia Type 1 pathology likely aris

41 ia Type 5, and spectrin-associated autosomal recessive cerebellar ataxia Type 1, but molecular mechan

42 each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding predictio

43 atients with molecularly confirmed autosomal recessive cerebellar ataxia.

44 g a review of the literature on 67 autosomal recessive cerebellar ataxias and personal clinical exper

45 Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging.

46 underlying molecular diagnoses of autosomal recessive cerebellar ataxias, thereby guiding targeted s

47 A novel autosomal recessive cerebro-renal syndrome was identified in consa

48 -facial-digital syndrome (OFD), an autosomal recessive ciliopathy.

49 Recessive coding mutations in PMM2 cause congenital diso

50 rding to which, in the naive state, polycomb recessive complex 2 repressed the IRAK-M promoter, allow

51 ) methyltransferase and part of the polycomb recessive complex 2, enhancer of Zeste 2, resulted in IR

52 bonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH).

53 acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the gene enco

54 Grange syndrome is an autosomal-recessive condition characterized by severe and early-on

55 MMS is an autosomal recessive condition described thus far in only a single

56 -Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial

57 Applying this database to unsolved recessive conditions in the GME population reduced the n

58 In contrast to recessive conditions with biallelic inheritance, identif

59 -6), which mostly defined carrier status for recessive conditions.

60 ve retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however, the functi

61 etinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two with the re

62 e been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs.

63 Autosomal recessive congenital ichthyosis is a heterogeneous group

64 ated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosi

65 domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mechanism invol

66 Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs.

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

68 Previously silent recessive defects of the myocardium may predispose to ac

69 nal propagation leads to the accumulation of recessive deleterious mutations but without decreasing f

70 typic consequences for a recurrent autosomal-recessive deletion mutation in revealing the genetic bas

71 deregulation of SHH signaling, resulting in recessive developmental defects of the CNS and limbs whi

72 ellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impai

73 ary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fumarylacetoac

74 age disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6-phosph

75 Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene t

76 loway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of ea

77 and Finns, both of which have high rates of recessive disease due to founder events.

78 eity logarithm of odds score = 3.9), under a recessive disease model with 100% penetrance and a risk

79 An autosomal recessive disease was found in 62.9% of patients, reflec

80 Asians through discovery of and testing for recessive disease-associated genes.

81 rogressive, and rare neuromuscular, X-linked recessive disease.

82 ed disease, and 67.2% (n = 45) had autosomal recessive disease.

83 Asia, has resulted in an elevated burden of recessive disease.

84 We identified multiple examples of recessive diseases in South Asia that are the result of

85 in ARSs typically cause severe, early-onset, recessive diseases that affect a wide range of tissues.

86 Cystic fibrosis (CF) is an autosomal recessive disorder affecting the cystic fibrosis transme

87 Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency

88 ficiency Syndrome (DTDS) is a rare autosomal recessive disorder caused by loss-of-function mutations

89 Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor d

90 CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin

91 d-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small

92 pinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by severe, often fatal

93 ary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of

94 Cockayne syndrome is an autosomal recessive disorder principally characterized by postnata

95 1B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (A

96 underlying Lesch-Nyhan syndrome, an X-linked recessive disorder.

97 adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in

98 eger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects in peroxi

99 lasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized b

100 le might also play a role in other autosomal-recessive disorders, in which only one heterozygous path

101 ation methods in the context of dominant and recessive disorders.

102 Recessive dystrophic epidermolysis bullosa (RDEB) is a r

103 Recessive dystrophic epidermolysis bullosa (RDEB) is a r

104 Recessive dystrophic epidermolysis bullosa (RDEB) is an

105 Recessive dystrophic epidermolysis bullosa (RDEB) is cau

106 Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rar

107 Recessive dystrophic epidermolysis bullosa is a devastat

108 or C3 and CFB in invasive cSCCs (n = 71) and recessive dystrophic epidermolysis bullosa-associated cS

109 nd quality of life of some patients with the recessive dystrophic subtype of epidermolysis bullosa.

110 to identify the molecular cause of autosomal recessive early onset retinal degeneration in a consangu

111 PINK1 (hPINK1) are associated with autosomal recessive early-onset Parkinson's disease (PD).

112 Parkin is associated with autosomal recessive early-onset PD, and controls the transcription

113 mouse mutation (stonedeaf, stdf ) leading to recessive, early-onset progressive hearing loss was dete

114 s an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebe

115 Autosomal recessive erythropoietic protoporphyria (EPP) and X-link

116 crossing data, this suggests that there is a recessive factor that causes SC that is physically unlin

117 is the most common gene mutated in monogenic recessive familial cases of Parkinson's disease (PD).

118 ytokinesis 8 (DOCK8) gene cause an autosomal recessive form of hyper-IgE syndrome, characterized by c

119 role in cell membrane repair and underlies a recessive form of inherited muscular dystrophy.

120 in 14), that cause a nonsyndromic, autosomal recessive form of intellectual disability.

121 ngs implicate MYLK as a gene involved in the recessive form of MMIHS, confirming that this disease of

122 he Parkin gene (PARK2) have been linked to a recessive form of Parkinson's disease (PD) characterized

123 ty of affected individuals have an autosomal recessive form of SCT and are homozygous or compound het

124 mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic

125 DSR have recently been reported in inherited recessive forms of progressive symmetric erythrokeratode

126 are inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for approx

127 ted the resistance is controlled by a single recessive gene, recessive TuMV resistance 03 (retr03), a

128 Lebanese population is ideal for uncovering recessive genes because of shared ancestry and a high ra

129 nate between mutations in known dominant and recessive genes.

130 they could explain the higher prevalence of recessive genetic diseases in recently settled regions o

131 fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in E

132 pproximately 5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for approximately

133 Additionally, we describe a recessive histone lysine-methylation defect caused by ho

134 ting enteropathy (CTE) is a severe autosomal recessive human diarrheal disorder with characteristic i

135 characterized by a non-BS, non-GS autosomal recessive hypokalemic-alkalotic salt-losing phenotype.

136 of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due

137 m cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism characterized by ne

138 populations, mainly a high rate of autosomal recessive inheritance and a unique composition of causat

139 Although strict recessive inheritance is assumed, patients carrying a si

140 sing variants following a model of autosomal recessive inheritance led to the identification of eleve

141 se macular dystrophy caused by the autosomal recessive inheritance of mutations in ABCA4.

142 Recessive inheritance of pest resistance has favored sus

143 enotypes at this locus obey simple Mendelian recessive inheritance of the black-throated phenotype ch

144 ii, explaining the unpatterned phenotype and recessive inheritance of the M. cardinalis allele.

145 Assuming autosomal recessive inheritance, we identify 27 genes that have ho

146 ted with an overlapping genodermatosis after recessive inheritance.

147 ranian cohort were consistent with autosomal recessive inheritance.

148 culocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentat

149 Autosomal recessive inherited neurodevelopmental disorders are hig

150 ary protein IFT43 as the underlying cause of recessive inherited retinal degeneration.

151 d as the cause of certain forms of autosomal-recessive intellectual disability (ID).

152 Autosomal-recessive juvenile Parkinsonism (AR-JP) is caused by mut

153 programmed patterns of pigmentation, and the recessive k1 mutation can epistatically overcome the dom

154 .Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness syndrome.

155 wo apolipoprotein-L1 (APOL1) variants with a recessive kidney disease risk, named G1 and G2, occur at

156 R-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile ret

157 like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most sev

158 species, many individuals carry one or more recessive lethal alleles, posing an evolutionary conundr

159 tion history and they are useful for mapping recessive loci contributing to both Mendelian and comple

160 gely unaffected over time, as expected for a recessive loss-of-function mutation.

161 ombined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8.

162 However, a recessive, loss-of-function mutation (S562L) in a putati

163 with additional early-onset autoimmunity had recessive LRBA mutations.

164 cause of type IV mucolipidosis, an autosomal recessive lysosomal storage disease.

165 Root hairs of the monogenic recessive maize mutant roothairless 6 (rth6) are arreste

166 we found that tolerance induction triggered recessive mechanisms leading to elimination of effector

167 is pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetri

168 eta-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid pro

169 in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.

170 utation described here represents an unusual recessive mode of inheritance for missense-mediated tubu

171 h CAD in two independent populations under a recessive model (Padj = 5.51 x 10(-3)/OR = 1.56 in the G

172 d showed the strongest association under the recessive model (TT vs. CT+CC: ocular lesion, Pc = 0.009

173 elated with a missense mutation in Gatm in a recessive model of inheritance, and causation was confir

174 Although a recessive model of this polymorphism best predicted body

175 The recessive mongenic brush mutation impaired root developm

176 us architectures, a common disease model for recessive monogenic disorders, where two different allel

177 IAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to nam

178 Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal

179 Exome sequencing identified an autosomal recessive mutation leading to an amino acid substitution

180 Using N-ethyl-N-nitrosourea, a novel recessive mutation named seal was produced, associated w

181 Zeb2(Delta)) and mice carrying a spontaneous recessive mutation that prevents conversion of EDN3 to i

182 Serinus canaria), which carries an autosomal recessive mutation that renders its plumage pure white,

183 e model (luc) carrying a spontaneous Zdhhc13 recessive mutation.

184 ermine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we

185 dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene for

186 ients harbour pathogenic WFS1 mutations, but recessive mutations in a second gene, CISD2, have been d

187 , in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (AT

188 In humans, autosomal recessive mutations in both genes cause similar osteogen

189 TION: Our study highlights the importance of recessive mutations in familial congenital hydrocephalus

190 individuals from 13 unrelated families with recessive mutations in FDXR, encoding the mitochondrial

191 Our data suggest that recessive mutations in FOXI1 can explain the disease in

192 asmid or in a CEN plasmid in the presence of recessive mutations in genes involved in stability and p

193 ed on astrocytes and myosatellite cells, and recessive mutations in humans result in early-onset myop

194 Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fi

195 We detected recessive mutations in nine known disease-causing genes:

196 We identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kindreds with

197 Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3,

198 this study we demonstrate that (i) autosomal-recessive mutations in POLR3A are a frequent cause of he

199 rological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-

200 All together, our data strongly suggest that recessive mutations in SLC45A1 cause ID and epilepsy.

201 Compound heterozygous recessive mutations in TAF1A, encoding an RNA polymerase

202 SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxystero

203 The primary cause of KOS is autosomal recessive mutations in the gene UBE3B However, to date,

204 aintained yield by masking the most damaging recessive mutations in the heterozygous state but have b

205 ss is mostly due to Usher syndrome caused by recessive mutations in the known genes.

206 Recessive mutations in the secreted metalloprotease ADAM

207 pulations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) gene.

208 Recessive mutations in these IAA genes result in decreas

209 Recessive mutations in WD repeat domain 62 (WDR62) cause

210 Similarly, we show that recessive mutations in WDR81, previously linked to cereb

211 bject to selection, either against partially recessive mutations or in favor of heterozygotes, may re

212 an now benefit from the deployment of useful recessive mutations previously identified in its diploid

213 e most common inherited ataxia, is caused by recessive mutations that reduce the levels of frataxin (

214 he possibility of mapping either dominant or recessive mutations.

215 The recessive N-ethyl-N-nitrosourea-induced phenotype toku i

216 The identified point mutations were mostly recessive (n=117, 81%), consistent with the high consang

217 The recessive nature of resistance to CaLCuV and the lack of

218 Here, we report an unusual autosomal recessive neurodegenerative condition, best classified a

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

220 ee of four human VPS13 genes cause autosomal recessive neurodegenerative or neurodevelopmental diseas

221 SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spasti

222 k type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder,

223 with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder i

224 Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by h

225 ley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized by early-o

226 ons in CSB are associated with the autosomal-recessive neurological disorder Cockayne syndrome, which

227 glutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a mutation i

228 Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogeni

229 Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an in

230 -Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal conditi

231 S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus

232 f 24 unrelated patients (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA) and in 8 p

233 e allelic to the y locus and showed the same recessive null allele in homozygosis: Deltay A set of mo

234 We identified recessive null mutations in 8 additional probands, of wh

235 CEP19, which is associated with an autosomal-recessive obesity syndrome when mutated, in the triggeri

236 Autosomal-recessive omodysplasia (OMOD1) is a genetic condition ch

237 dence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) ge

238 quencies of nearly neutral variants that are recessive or partially recessive.

239 However, evidence suggesting a recessive origin of the disease also exists.

240 Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorde

241 ed with increased susceptibility to leprosy (recessive, P = 1.4 x 10(-3)) and with increased skin exp

242 ations in PARK7 are a rare cause of familial recessive Parkinson's disease (PD), but growing evidence

243 en postulated that heterozygous mutations in recessive Parkinson's genes may increase the risk of dev

244 NJ1 (PARK20), a gene that is associated with recessive Parkinsonism.

245 Autosomal recessive, partial GINS1 deficiency impairs DNA replicat

246 Here we report four autosomal-recessive pathogenic mutations in the gene encoding the

247 ndeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never be

248 nheritance) and p.Q163X (in 73% of autosomal recessive patients).

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

250 an CalDAG-GEFI deficiency as a nonsyndromic, recessive PFD associated with a moderate or severe bleed

251 tudy biological processes, though uncovering recessive phenotypes requires inactivating both alleles.

252 resulting mutants exhibited a wide range of recessive phenotypes, which could generally be explained

253 Autosomal recessive polycystic kidney disease (ARPKD) is an import

254 Autosomal recessive polycystic kidney disease (ARPKD), usually con

255 s of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1, indicati

256 ng from previously characterized dominant or recessive potyvirus resistance genes.

257 ponse in a similar manner to SN and DNE, and recessive ppd mutants on a spring-flowering hr mutant ba

258 We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CM

259 Here we describe an autosomal recessive presynaptic congenital myasthenic syndrome pre

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

261 Autosomal recessive primary microcephaly (MCPH) is a rare conditio

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

263 By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were fou

264 Here we report the addition of recessive quadrupedalism, also known as Uner Tan syndrom

265 y percent of these mutations were homozygous recessive, reflecting consanguinity in these families.

266 Recessive RELN mutations have been associated with sever

267 Here we report that natural, monogenic recessive resistance to the Potyvirus Turnip mosaic viru

268 Recessive resistances to plant viruses in the Potyvirus

269 tations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and autosomal rece

270 e the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associ

271 genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy

272 ion (c.640_644del5) in RNF168, causative for recessive RIDDLE syndrome, had high prevalence in majori

273 sociated with RP progression, with autosomal recessive RP progressing at 148 mum/year and autosomal d

274 rotein 6, in several families with autosomal recessive RP.

275 (CNGB1) cause approximately 4% of autosomal recessive RP.

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

277 almoplantar keratosis (NPPK) is an autosomal recessive skin disorder with a high, unmet medical need

278 700 M2 families screened, we identified four recessive sparse panicle mutants (spp1-spp4) characteriz

279 First, whole-exome sequencing findings in a recessive spastic ataxia family turned our attention to

280 The neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS)

281 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

282 ant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndro

283 Recessive Stargardt macular degeneration (STGD1) is caus

284 tterned differently between the dominant and recessive subgenomes in the natural allopolyploid.

285 that MSH3 mutations represent an additional recessive subtype of colorectal adenomatous polyposis.

286 ebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome characterized by neurodegeneration an

287 Bathing suit ichthyosis is caused by recessive, temperature-sensitive mutations in the transg

288 ere eight related individuals with autosomal recessive TIRAP deficiency.

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

290 -compatibility (SC) behaved genetically as a recessive trait, as expected from a loss-of-function mut

291 Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most comm

292 ce is controlled by a single recessive gene, recessive TuMV resistance 03 (retr03), an allele of the

293 ition, exome sequencing revealed de novo and recessive variants in 32 genes (MAMDC2, TUBAL3, CPNE6, K

294 with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequ

295 n another 48 families (31.6%), 52 convincing recessive variants in candidate genes that were not prev

296 and biochemical analyses comparing the white recessive with yellow and red breeds of canaries.

297 of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS pre

298 hy (arNSOA) and in 8 patients with autosomal recessive Wolfram syndrome (arWS) associated with diabet

299 ns are functionally different from the known recessive Wolfram syndrome-causing mutations, as they te

300 and differs genetically and clinically from recessive Wolfram syndrome.