ライフサイエンスコーパス: recessive

1 The mutations were in mntA and they were recessive.

2 suggesting that the resistance is partially recessive.

3 in trans, indicating that the mutant gene is recessive.

4 dentified, altered host range mutations were recessive.

5 henotype that has otherwise been exclusively recessive.

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

7 lar ataxia spinocerebellar ataxia, autosomal recessive 20 (SCAR20)-associated protein Snx14, an endop

8 possibility of compensation for deleterious recessive alleles as a mechanism.

9 ntally acquired MGE-encoded genes, silencing recessive alleles if the recipient bacterium already car

10 ally cataloged the known X-linked, autosomal recessive and autosomal dominant inherited disorders, bu

11 that current AI cohorts, both with autosomal recessive and dominant disease, be screened for SP6 vari

12 Recent studies have identified both recessive and dominant forms of mitochondrial disease th

13 classify genes into three categories, null, recessive and haploinsufficient, on the basis of the con

14 c pigs and their progenitors were homozygous recessive and heterozygous, respectively, for the 4,165-

15 r male-sterile mutants with non-conditional, recessive and strictly monogenic inheritance are useful

16 Inheritance of resistance to Cry1Ac was recessive and tightly linked with r14.

17 Inheritance of resistance was recessive and tightly linked with r15.

18 Recent inbreeding to select for recessive and unusual coat colors may have concentrated

19 d 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inheritance.

20 orted to harbour autosomal dominant (AD) and recessive (AR) causative variants.

21 linical and genetic aspects of the autosomal recessive (AR) form of CSNB.

22 t within 187 genes associated with autosomal recessive (AR) inherited retinal diseases (IRDs).

23 In the first stage, we performed a recessive association screen of 50 common gene-intersect

24 enay, one of the most common childhood-onset recessive ataxias.

25 The condition, transmitted as a recessive autosomal trait, is usually due to mutations i

26 hodopsin degradation in an iPSC-RPE model of recessive bestrophinopathy as well as in two models of d

27 ts with ocular disease (amblyopia, autosomal recessive bestrophinopathy, premature birth) having a si

28 with Bardet-Biedl syndrome (BBS) with known recessive biallelic pathogenic mutations in one of 17 BB

29 RD3 (retinal degeneration 3) protein causes recessive blindness and photoreceptor degeneration in hu

30 Fowler syndrome is a rare autosomal recessive brain vascular disorder caused by mutation in

31 Molecular modeling of the recessive c.1633C>T (p.Arg545Cys) variant shows weaker s

32 inherited phenotype is generally milder than recessive cases, it raises the possibility that it could

33 CASQ2 missense variants and the established recessive CASQ2-p.R33Q variant were evaluated using olig

34 reditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sj

35 Autosomal-recessive cerebellar hypoplasia and ataxia constitute a

36 Our analyses reveal dominant and recessive CHD are associated with distinct gene function

37 Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by no

38 dl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy affecting multiple organs.

39 population (autosomal dominant and autosomal recessive CMT2A grouped together), the CMT Pediatric Sca

40 of 196 patients with dominant and autosomal recessive CMT2A, we present an in-depth genotype-phenoty

41 of infected females that all carry the same recessive colour patterning allele, making the phenotype

42 FCHO1 deficiency is a novel autosomal recessive combined immune deficiency with impaired clath

43 notypes are rescued with WT IFNAR1 Autosomal recessive, complete IFNAR1 deficiency can result in life

44 Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzym

45 In horses, the autosomal recessive condition known as Glycogen Branching Enzyme D

46 conditions, and carrier status for autosomal-recessive conditions.

47 otein Rab28, associated with human autosomal recessive cone-rod dystrophy, negatively regulates EV le

48 ertain, is absent in patients with autosomal recessive congenital ichthyoses with mutations in enzyme

49 s are defective in lipid-synthetic autosomal recessive congenital ichthyoses; and (v) lipoxygenases,

50 Autosomal recessive congenital ichthyosis (ARCI) is a diverse grou

51 into lamellar membranes in certain autosomal recessive congenital ichthyosis epidermis, suggesting th

52 We tested how the mutations causing recessive congenital stationary night blindness (CSNB),

53 t on 4 French Canadians with a novel form of recessive congenital TNNT1 core-rod myopathy.

54 ADAMTSL2 mutations cause an autosomal recessive connective tissue disorder, geleophysic dyspla

55 autosomal recessive RP (23.4%) and autosomal recessive CORD (9.9%) in the Japanese population.

56 xplain the selective loss of rod function in recessive CSNB.

57 Type B Kufs is usually associated with recessive CTSF pathogenic variants.

58 hereas the residues altered in families with recessive DA only indirectly impair this interaction.

59 DEB can be inherited as recessive DEB (RDEB) or dominant DEB (DDEB) and is assoc

60 Recessive deletions were significantly enriched in affec

61 allmark of trichothiodystrophy (TTD), a rare recessive disease associated with a wide spectrum of cli

62 Ataxia-telangiectasia (A-T) is an autosomal recessive disease caused by mutation of the ATM gene and

63 dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gen

64 Here we report a novel autosomal recessive disease characterized by absent B cells, agamm

65 GAMOS), a clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-r

66 cate that IQSEC1 variants are the cause of a recessive disease with intellectual disability, developm

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

68 ibrosis (CF) is a life-threatening autosomal recessive disease, caused by mutations in the CF transme

69 Carrier status for recessive diseases and pharmacogenomics variants were re

70 Autosomal recessive diseases, such as cystic fibrosis (CF), requir

71 presentation due to imprinting disorders or recessive diseases.

72 ted pharmacogenomics, and carrier status for recessive diseases.

73 anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations.

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

75 ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1

76 Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL

77 Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL, which en

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

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

80 ncephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, enc

81 hmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse

82 megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle w

83 la-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facia

84 iphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by short stature, short

85 This recessive disorder is characterized by a failure to meta

86 somes, causing Gaucher disease, an autosomal recessive disorder that displays profound genotype-pheno

87 protein B (SP-B) deficiency is an autosomal recessive disorder that impairs surfactant homeostasis a

88 ing with a previously unrecognized autosomal recessive disorder that included a severe form of spondy

89 for further in-depth research on ARS related recessive disorders and precision therapies.

90 ng for aneuploidies or carrier screening for recessive disorders.

91 del for secondary-variant burden analysis in recessive disorders.

92 or genes in which variants exclusively cause recessive, dominant, or X-linked disease, respectively.

93 ing their wounds compared with patients with recessive dystrophic EB.

94 Recessive dystrophic epidermolysis bullosa (RDEB) is a d

95 VII cause the devastating blistering disease recessive dystrophic epidermolysis bullosa (RDEB).

96 s in PTEN-induced kinase 1 (PINK1) can cause recessive early-onset Parkinson's disease (PD).

97 quitin ligase, are associated with autosomal recessive early-onset Parkinson's disease (PD).

98 encoded by the MCM3AP gene, cause autosomal recessive early-onset peripheral neuropathy with or with

99 mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases.

100 Here, we introduce the Toxin-Antidote Recessive Embryo (TARE) drive.

101 vate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that c

102 tations are likely to be a frequent cause of recessive epileptic encephalopathy.

103 various facial dysmorphisms, in an autosomal-recessive fashion.

104 The recessive form includes subjects with biallelic deletion

105 n calsequestrin-2 (CASQ2) cause an autosomal recessive form of catecholaminergic polymorphic ventricu

106 ock2 have been identified in patients with a recessive form of combined immunodeficiency with defects

107 -function mutations in EXPH5 in an autosomal recessive form of epidermolysis bullosa simplex.

108 hydrogenase gene (SORD) as the most frequent recessive form of hereditary neuropathy.

109 y APC2 as a radiographically distinguishable recessive form of lissencephaly.

110 ly with two siblings displaying an autosomal recessive form of NS with massive hypertrophic cardiomyo

111 ons in DJ-1 were found to cause an autosomal recessive form of Parkinson's disease.

112 binding protein (CRALBP), cause an autosomal recessive form of retinal degeneration.

113 yr1TM/Indel mice exhibit a post-natal lethal recessive form of RYR1 RM that pheno-copies the severe c

114 Reticular dysgenesis is an autosomal recessive form of severe combined immunodeficiency (SCID

115 s in the SPART gene cause Troyer syndrome, a recessive form of spastic paraplegia resulting in muscle

116 owledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative ef

117 al proteins has been implicated in autosomal recessive forms of optic atrophy that involve progressiv

118 NK1), a serine/threonine kinase mutated in a recessive forms of Parkinson's disease.

119 SCID phenotype in individuals with autosomal-recessive FOXN1 mutations.

120 oligomerization pattern may underlie APOL1's recessive, gain-of-function biology.

121 e same genetic basis in each line - a single recessive gene located in a 1.1-Mb region on chromosome

122 Inherited deficiency of TFP is a recessive genetic disease, manifesting in hypoketotic hy

123 editary hemochromatosis (HH) is an autosomal recessive genetic disorder with increased intestinal iro

124 erapy approaches are being deployed to treat recessive genetic disorders by restoring the expression

125 Autosomal recessive genetic forms (DFNB) account for most cases of

126 Under recessive genetic model (controlling for age, sex and in

127 The expansion phenotype was recessive: genetically mutant progeny from coinfected ce

128 Kindler syndrome is an autosomal recessive genodermatosis that results from mutations in

129 Exome sequencing revealed a recessive germline 21-bp in-frame deletion in NUAK2 segr

130 se are the first reported cases of autosomal-recessive germline TET2 deficiency in humans, causing cl

131 cally affected pigs presented non-dystrophic recessive Hereditary Myotonia.

132 bunits cause a complicated form of autosomal-recessive hereditary spastic paraplegia termed AP-4-defi

133 evere hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related

134 nate genetic sequences result in dominant or recessive heritable deafness forms in humans and mice.

135 is potentially a life-threatening autosomal recessive HIES and only curable with bone marrow transpl

136 a de novo single nucleotide variants (SNVs), recessive/homozygous SNVs, or de novo copy number varian

137 gradation, are the likely cause of autosomal recessive HSP in four unrelated families and functionall

138 ting enteropathy (CTE) is a life-threatening recessive human genetic disorder that is caused by mutat

139 onent of desmosomes, cause both dominant and recessive human keratoderma.

140 More recently, recessive human mutations were identified in the two pho

141 eficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES).

142 endent on AP-1B and its coadaptor, autosomal recessive hypercholesterolemia protein (ARH), for sortin

143 n addition to reporting a complete autosomal recessive IFN-gamma receptor 1-deficient patient with mu

144 The autosomal recessive immunodeficiency, centromeric instability, and

145 We report for the first time an autosomal recessive inborn error of de novo purine synthesis (DNPS

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

147 -2) gene, whose mutation is characterized by recessive inheritance of a long 26 hr period phenotype,

148 We hypothesized that recessive inheritance of gene-disrupting variants may re

149 Although an autosomal-recessive inheritance pattern has been hypothesized, pat

150 rs, especially in those from families with a recessive inheritance pattern, who may benefit from earl

151 lone may be insufficient for counseling, but recessive inheritance should be considered likely in sev

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

153 Pedigree analysis suggested an autosomal recessive inheritance.

154 ted, deceased siblings, suggesting autosomal recessive inheritance.

155 lethal syndromic polymicrogyria of autosomal recessive inheritance.

156 holine transporter deficiency with autosomal recessive inheritance.

157 SBP1) in 4 families with dominant and 1 with recessive inheritance.

158 Gilbert syndrome (GS) is an autosomal recessive inherited disorder of bilirubin glucuronidatio

159 the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), with a high p

160 rs ago is the most common cause of autosomal recessive intellectual disability (ID) in Arabia.

161 lic loss-of-function variants in LAMB3 cause recessive junctional epidermolysis bullosa, characterize

162 dopsin trafficking is also characteristic of recessive KIF3B models as exemplified by an early-onset,

163 can explain the dominant CORD6 blindness and recessive LCA1 blindness, both of which affect rods and

164 tinal diseases ranging from severe autosomal recessive Leber congenital amaurosis to later onset reti

165 ongenital stationary night blindness (CSNB), recessive Leber's congenital amaurosis (LCA1), and domin

166 nctions by disrupting a target gene, forming recessive lethal alleles, while rescuing drive-carrying

167 inbred lines, indicating a high frequency of recessive lethals in the ancestral population.

168 opathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMD

169 Partially recessive, linked deleterious mutations can increase neu

170 is evolutionary dynamic may manifest as high recessive load specifically affecting the homogametic se

171 eir genomic locations are useful for mapping recessive loci contributing to both Mendelian and comple

172 Recessive loss-of-function mutations in ATP13A2 (PARK9)

173 ity of muscle fibres in humans and show that recessive loss-of-function mutations in SVIL cause a dis

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

175 to identify the genetic lesion underlying a recessive, low-prolamin mutation (lys3a) in diploid barl

176 Autosomal recessive LRBA risk alleles are associated with severe,

177 Recessive LRPAP1 gene mutations confer a high risk of ch

178 IIIB; Sanfilippo syndrome B) is an autosomal recessive lysosomal storage disorder caused by the defic

179 porter cystinosin-cause the rare, autosomal, recessive, lysosomal-storage disease cystinosis.

180 ts a hot spot for SAS, offering a refuge for recessive male-beneficial but female-costly alleles.

181 that is able to prioritize both dominant and recessive Mendelian disease genes(5), that outperforms m

182 rtant to identify compound heterozygosity in recessive Mendelian diseases and discover genetic driver

183 ase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism.

184 cause a severe multi-system disorder whereas recessive missense mutations had been previously associa

185 s that cause kidney dysfunction, following a recessive mode of inheritance.

186 oped and confirmed fully penetrant autosomal recessive mode of inheritance.

187 associated with longer telomere length via a recessive model in our cohort (P = 0.003).

188 nt segregating with thrombocytopenia under a recessive model: GALE p.R51W (c.C151T, NM_001127621).

189 pinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by deletion or mut

190 CRISPR/Cas9 gene editing to generate a novel recessive mouse model of RYR1 RM.

191 n the course of a forward genetic screen for recessive mouse mutants, we identified a functional null

192 ense, nonsense, and frameshift alleles cause recessive multisystem disorders that differentially affe

193 ohydrate partitioning defective33 (cpd33), a recessive mutant that accumulated excess starch and solu

194 n accelerated birch flowering program with a recessive mutation at the ELIMAKI locus (EKI), which cau

195 data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illu

196 Importantly, BEST1 dominant and recessive mutations are both rescuable at a similar effi

197 ive sweeps, to be refined to include harmful recessive mutations creating associative overdominance.

198 Previous results show that recessive mutations disrupting an autosomal ATP-binding

199 We conclude that recessive mutations disrupting PgABCA2 are the primary,

200 Recessive mutations have also been implicated(11-14) but

201 -girdle muscular dystrophy (LGMD), caused by recessive mutations in ANO5, encoding anoctamin-5 (ANO5)

202 Here, we report on two families with recessive mutations in NCAPG2 and overlapping clinical p

203 Given that recessive mutations in PINK1 cause familial PD, the find

204 Dominant and recessive mutations in podocalyxin (PODXL) are associate

205 Recessive mutations in POLR3A, encoding the largest subu

206 Analysis of single recessive mutations in rel2 revealed an array of vegetat

207 Recessive mutations in RTTN, encoding the protein rotati

208 Inheritance of recessive mutations in SLC4A4 causes proximal renal tubu

209 Recessive mutations in the GAF-A domain have been shown

210 Autosomal recessive mutations in the galactosidase beta1 (GLB1) ge

211 evastating, multisystemic disorder caused by recessive mutations in the mitochondrial protein frataxi

212 Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene (RF

213 umulates in cells derived from patients with recessive mutations in the tricarboxylic acid cycle (TCA

214 We report that recessive mutations in this particular exon of FXR1 caus

215 ere, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families

216 In young-onset patients, dominant and recessive mutations were equally common.

217 Brody disease is an autosomal recessive myopathy characterized by exercise-induced mus

218 ls from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalm

219 cause organisms to run out of genes, and the recessive nature of most loss-of-function mutations.

220 -exome or whole-genome sequencing identified recessive NAXD variants in each case.

221 In this study, we recruited seven different recessive NDD families with comorbidities to perform a d

222 Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenerative and cardiac disorder which o

223 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by the defici

224 CLN3 Batten disease is an autosomal recessive, neurodegenerative, lysosomal storage disease

225 Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by

226 ufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by i

227 nt biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, P

228 genic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuro

229 We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy a

230 with this clinically heterogeneous autosomal-recessive neurological disorder.

231 disorder linked to C/EBPepsilon is autosomal recessive neutrophil-specific granule deficiency leading

232 ntosa (RP), and also contribute to autosomal recessive non-syndromic RP.

233 syndrome type 2 (USH2) (n = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) (n =

234 GFRA1-inactivating variants for an autosomal recessive, nonsyndromic form of BRA.

235 ch determined that the patient had autosomal recessive NOS2 deficiency.

236 are, inherited arrhythmia syndrome caused by recessive null mutations in TRDN-encoded cardiac triadin

237 Recessive null variants of the slow skeletal muscle trop

238 were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5% were de no

239 Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits.

240 vors the fixation of dominant mutations over recessive ones.

241 n identified as responsible for an autosomal recessive optic neuropathy from a Chinese consanguineous

242 ly defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patie

243 es not involve PgABCA2 and is not completely recessive or autosomal.

244 Compound heterozygous recessive or polygenic diseases could be addressed throu

245 iously described GSDs segregate as autosomal recessive or X-linked traits.

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

247 es occurred more frequently in the autosomal-recessive Parkinson's disease cohort (65 of 192, 33.85%)

248 ng 192 probands from families with autosomal-recessive Parkinson's disease, 242 probands from familie

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

250 Type A is usually caused by recessive pathogenic variants in CLN6 or dominant varian

251 3 (OMIM #613211), which follows an autosomal recessive pattern of inheritance.

252 sk variant APOL1 to LDs may help explain the recessive pattern of kidney disease inheritance.

253 t is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations.

254 segregation analysis resulting in autosomal recessive pediatric DCM due to presumptive JPH2 truncati

255 -induced rhabdomyolysis, and the more severe recessive phenotypes, including multiminicore disease, c

256 ARS-encoding loci cause severe, early-onset recessive phenotypes.

257 ith the gray platelet syndrome (GPS), a rare recessive platelet disorder with alpha-granule abnormali

258 In this study, we described a recessive point mutation in the versican 3'UTR resulting

259 Autosomal recessive polycystic kidney disease (ARPKD) and autosoma

260 ral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-ter

261 pithelial cells from patients with autosomal recessive polycystic kidney disease (ARPKD) had signific

262 Autosomal recessive polycystic kidney disease (ARPKD) is a severe

263 we establish an in vitro model of autosomal recessive polycystic kidney disease (ARPKD), the cystic

264 e cystic phenotype associated with autosomal recessive polycystic kidney disease.

265 taxia; ataxia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia; and auto

266 ressive rod-cone degeneration), an autosomal recessive progressive retinal atrophy (PRA) with a late

267 as exemplified by an early-onset, autosomal-recessive, progressive retinal degeneration in Bengal ca

268 I couples a dominant lethal transgene with a recessive resistance allele.

269 cells homozygous for variant B cystatin C, a recessive risk factor for age-related macular degenerati

270 high proportion of EYS-RD both in autosomal recessive RP (23.4%) and autosomal recessive CORD (9.9%)

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

272 tion of a nonsyndromic, high myopia-related, recessive RRD without any signs of vitreoretinal degener

273 tail the biochemistry and pathophysiology of recessive RYR1 myopathies, here we investigated a mouse

274 for both establishing the pathomechanisms of recessive RYR1 RM and pre-clinical testing of therapies

275 ggyBac transposon tools and mouse models for recessive screening and show their application to study

276 are a relatively frequent cause of autosomal recessive severe spermatogenic failure and male infertil

277 artilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia with growth failure, immuno

278 20 kDa multidomain protein, causes autosomal recessive spastic ataxia of the Charlevoix-Saguenay, one

279 ted with the neurological disorder autosomal recessive spinocerebellar ataxia type 10 (SCAR10), its l

280 SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized

281 s crucial to the diagnosis and monitoring of recessive Stargardt disease (STGD1).

282 analysis of the natural history of autosomal recessive Stargardt disease (STGD1).

283 llelic loss-of-function NUP188 variants in a recessive syndrome characterized by a distinct neurologi

284 ion mutations in PTPRJ that caused autosomal-recessive thrombocytopenia and a bleeding disorder in 2

285 xome sequencing of 2 siblings with autosomal-recessive thrombocytopenia, we identified biallelic loss

286 Autosomal recessive TK2 mutations cause depletion and multiple del

287 holocentromere formation in a manner that is recessive to chromatin dynamics is evolutionarily conser

288 anner, and for which the BALB/cByJ allele is recessive to that of BALB/cJ.

289 ymorphism, for which the BALB/cByJ allele is recessive to that of BALB/cJ.

290 ld BR response phenotype of bri1 (cnu4) is a recessive trait, whereas the RLP44-mediated xylem phenot

291 on due to asymmetries in the heritability of recessive traits in the homogametic versus heterogametic

292 f participants were carriers for one or more recessive traits, most commonly in HFE and SERPINA1 gene

293 , this study reports the third pedigree with recessive TSPYL1 variants, confirming that TSPYL1 defici

294 of individuals with a non-BBS diagnosis and recessive variants in the same gene set.

295 Two known recessive variants within SLC22A12 (p.Trp258*, pArg90His

296 ants could be toxic gain-of-function and for recessive variants, partial loss-of-function.

297 tributed to an excess of damaging de novo or recessive variants.

298 ies (12 autosomal dominant and one autosomal recessive) with an anosmic form of IGD (Kallmann syndrom

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

300 We report recessive YIPF5 mutations as the genetic cause of a cong