ライフサイエンスコーパス: autosomal recessive disease

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

2 that existed between siblings with the same autosomal recessive disease.

3 inant fashion, which is inconsistent with an autosomal recessive disease.

4 ily history of the disorder, consistent with autosomal recessive disease.

5 ALG3-CDG is a rare autosomal recessive disease.

6 yglandular syndrome type 1 (APS-1) is a rare autosomal recessive disease.

7 This gene was previously associated with autosomal recessive disease.

8 rticipant had two pathogenic variants for an autosomal-recessive disease.

9 A) remains one of the most common and lethal autosomal recessive diseases.

10 t, which results in the relative increase in autosomal recessive diseases.

11 The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with l

12 n fragility syndrome is a recently described autosomal recessive disease affecting skin, nails, and h

13 uscular dystrophy and one of the most common autosomal recessive diseases among the Japanese populati

14 inical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential pre

15 nt and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient out

16 s, 33 had autosomal dominant disease, 16 had autosomal recessive disease, and 9 had X-linked disease.

17 It is a rare autosomal recessive disease, and the majority of patient

18 n ideal approach to studying fully penetrant autosomal-recessive diseases, and it has been very power

19 Autosomal recessive diseases are those that require muta

20 o cancer are hallmarks of Bloom syndrome, an autosomal recessive disease arising from mutations in th

21 Fanconi's anemia is an autosomal recessive disease associated with chromosomal

22 Hereditary hemochromatosis (HH) is a common autosomal recessive disease associated with loss of regu

23 Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disease associated with loss-of-func

24 Discovery of most autosomal recessive disease-associated genes has involve

25 The hereditary autosomal recessive disease ataxia telangiectasia (A-T)

26 In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T)

27 ATM is the gene responsible for the autosomal recessive disease ataxia-telangiectasia (AT).

28 nd NBS1, mutation of which lead to the human autosomal recessive diseases ataxia telangiectasia and N

29 Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine sy

30 Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the tr

31 , or mucopolysaccharidosis (MPS) IIIB, is an autosomal recessive disease caused by a deficiency of ly

32 Friedreich ataxia (FRDA) is a frequent autosomal recessive disease caused by a GAA repeat expan

33 Friedreich's ataxia (FA) is an autosomal recessive disease caused by decreased expressi

34 Primary ciliary dyskinesia (PCD) is an autosomal recessive disease caused by defective cilia mo

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

36 pe B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alph

37 Cystic fibrosis (CF) is an autosomal recessive disease caused by dysfunctional cyst

38 Ataxia telangiectasia (A-T) is an autosomal recessive disease caused by loss of function o

39 Ataxia Telangiectasia (A-T) is an autosomal recessive disease caused by loss of function o

40 Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mut

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

42 taxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX,

43 rbidity and mortality in cystic fibrosis, an autosomal recessive disease caused by mutations in CFTR.

44 Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA r

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

46 Sitosterolemia is a rare, autosomal recessive disease caused by mutations in the a

47 ectodermal dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the A

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

49 Cystic fibrosis (CF) is a common autosomal recessive disease caused by mutations in the C

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

51 ity and Facial anomalies) syndrome is a rare autosomal recessive disease caused by mutations in the D

52 Ataxia-telangiectasia (A-T) is a human autosomal recessive disease caused by mutations in the g

53 drial DNA depletion syndrome is an inherited autosomal recessive disease caused by mutations in the i

54 Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by N-acetylgalactosam

55 cular dystrophies 2C-F represent a family of autosomal recessive diseases caused by defects in sarcog

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

57 nesis disorders (PBDs) are a group of lethal autosomal-recessive diseases caused by defects in peroxi

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

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

60 ted, complete deficiency of CPSase I, a rare autosomal recessive disease, causes death in newborn inf

61 Meckel syndrome (MKS) is a rare autosomal recessive disease causing perinatal lethality

62 adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an asso

63 7-kDa subunit cause abetalipoproteinemia, an autosomal recessive disease characterized by a defect in

64 Fanconi anemia (FA) is a rare autosomal recessive disease characterized by a greatly i

65 Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by a high inci

66 Werner syndrome is a rare autosomal recessive disease characterized by a premature

67 Cystic fibrosis (CF) is an autosomal recessive disease characterized by abnormal ai

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

69 Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow

70 Fanconi anemia (FA) is an autosomal recessive disease characterized by chromosomal

71 e urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disease characterized by congenital

72 Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital

73 Fanconi anemia (FA) is a heterogeneous autosomal recessive disease characterized by congenital

74 Urofacial (Ochoa) syndrome is an autosomal recessive disease characterized by distorted f

75 Bartter's syndrome is an autosomal recessive disease characterized by diverse abn

76 Werner syndrome (WS) is an autosomal recessive disease characterized by early onset

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

78 Primary hyperoxaluria type-1 (PH1) is an autosomal recessive disease characterized by excessive o

79 Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grim

80 Fanconi anemia (FA) is an autosomal recessive disease characterized by genomic ins

81 erma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability t

82 drome (UFS; previously Ochoa syndrome) is an autosomal recessive disease characterized by incomplete

83 Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased i

84 Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron accumu

85 isorder of glycosylation type IIc) is a rare autosomal recessive disease characterized by leukocyte a

86 We describe a previously unknown autosomal recessive disease characterized by microcephal

87 Fanconi anemia is a rare autosomal recessive disease characterized by multiple co

88 nesco-Sjogren syndrome (MSS), a debilitating autosomal recessive disease characterized by multisystem

89 Cockayne syndrome (CS) is a devastating autosomal recessive disease characterized by neurodegene

90 Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized by normal brai

91 Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate acc

92 Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dil

93 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet de

94 Werner syndrome (WS) is an autosomal recessive disease characterized by premature a

95 n of the gene WRN causes Werner syndrome, an autosomal recessive disease characterized by premature a

96 Ataxia-telangiectasia (A-T) is an autosomal recessive disease characterized by progressive

97 Friedreich ataxia (FA) is an autosomal recessive disease characterized by progressive

98 Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive

99 Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive

100 Mediterranean fever (FMF; MIM 249100) is an autosomal recessive disease characterized by recurrent a

101 wn as vitamin D-dependent rickets type I, an autosomal recessive disease characterized by rickets and

102 ch for Ghosal hematodiaphyseal dysplasia, an autosomal recessive disease characterized by severe norm

103 Fanconi anemia (FA) is a rare autosomal recessive disease characterized by skeletal de

104 (G5) or ABCG8 (G8) cause sitosterolemia, an autosomal recessive disease characterized by sterol accu

105 The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressiv

106 ial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital

107 Friedreich ataxia is a severe autosomal-recessive disease characterized by neurodegene

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

109 Alstrom syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod r

110 Familial Mediterranean fever (FMF) is an autosomal recessive disease due to mutations in pyrin, w

111 rointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that r

112 ce pLoF variants in 22 genes associated with autosomal-recessive disease from the Genome Aggregation

113 This autosomal recessive disease has been reported to occur i

114 e protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis.

115 r (FMF) has traditionally been considered an autosomal-recessive disease; however, it has been observ

116 age data demonstrate that the disorder is an autosomal recessive disease in these kindreds.

117 nsky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding,

118 mans cause Chanarin-Dorfman syndrome, a rare autosomal recessive disease in which excess triacylglyce

119 n the WRN gene result in Werner syndrome, an autosomal recessive disease in which many characteristic

120 Werner syndrome (WRN) is an uncommon autosomal recessive disease in which progeroid features

121 Canine cyclic neutropenia is an autosomal recessive disease in which the number of neutr

122 This autosomal recessive disease is caused by mutations in NR

123 This autosomal recessive disease is caused by mutations in th

124 This autosomal recessive disease is characterized by variable

125 This autosomal recessive disease is diagnosed in many regions

126 ycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glyc

127 atrophy (SMA), one of the most common fatal autosomal recessive diseases, is characterized by degene

128 However, for many autosomal recessive diseases, it can be difficult to ded

129 ular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscl

130 Fanconi anemia (FA) is a rare autosomal recessive disease manifested by bone-marrow fa

131 ntation group E of xeroderma pigmentosum, an autosomal recessive disease manifested clinically by hyp

132 Fanconi anemia (FA) is an autosomal recessive disease marked by bone marrow failur

133 Fanconi anemia (FA) is an autosomal recessive disease marked by congenital defects

134 Fanconi anemia (FA) is an autosomal recessive disease marked by congenital defects

135 Fanconi anemia (FA) is an autosomal recessive disease marked by developmental defe

136 Fanconi anemia (FA) is an autosomal recessive disease of cancer susceptibility.

137 muscular atrophy is the second most frequent autosomal recessive disease of childhood and the most fa

138 The similar autosomal recessive disease of dogs, canine cyclic hemat

139 Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo child

140 serythropoietic anemia type II (CDAII) is an autosomal recessive disease of ineffective erythropoiesi

141 atrophy (SMA), the second most common fatal, autosomal recessive disease of infants, manifests as gen

142 Photoreceptor dysplasia (pd) is an autosomal recessive disease of miniature schnauzer dogs

143 rm of chondrodysplasia punctata (RCDP) is an autosomal recessive disease of peroxisome biogenesis cha

144 Achromatopsia is an autosomal recessive disease of the retina, characterized

145 ultiple allelic hits being able to modify an autosomal recessive disease phenotype in humans.

146 ong at least six loci that contribute to the autosomal recessive disease, primary microcephaly.

147 SCD is an autosomal recessive disease resulting from a single poin

148 ystemic carnitine deficiency (SCD) is a rare autosomal recessive disease resulting from defects in th

149 cogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient gly

150 Cystic fibrosis (CF) is a common autosomal recessive disease resulting from mutations of

151 Spinal muscular atrophy is an autosomal recessive disease resulting in motor neuron de

152 Autosomal recessive diseases, such as cystic fibrosis (C

153 Congenital muscular dystrophy type 1A is an autosomal recessive disease that is caused by loss-of-fu

154 Sclerosteosis is an autosomal recessive disease that is characterized by ove

155 ocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by sho

156 Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Nava

157 ngenital dyserythropoietic anemia type I, an autosomal recessive disease that manifests from mutation

158 RN gene cause Werner syndrome (WRN), a human autosomal recessive disease that mimics premature aging

159 Juvenile Batten disease (JNCL) is an autosomal recessive disease that results from mutations

160 h secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte

161 Acheiropodia is an autosomal recessive disease that results in hemimelia (l

162 Werner syndrome (WS) is an autosomal recessive disease that results in premature ag

163 ro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family o

164 sorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation

165 Werner syndrome (WS) is an autosomal recessive disease, the phenotype of which is a

166 abetes and deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defec

167 l collaborative efforts to characterize rare autosomal recessive disease traits, and (4) provides ins

168 pectancy was approximately 6 months, and the autosomal recessive disease was believed to arise from a

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

170 ty of SNPs as markers for large deletions in autosomal recessive diseases when only a single mutation

171 euronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive disease, where the defective gene is

172 ndelian Inheritance in Man 235510) is a rare autosomal recessive disease, which is associated with mu

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

174 Werner syndrome (WRN) is an uncommon autosomal recessive disease whose phenotype includes fea

175 g, using congenital hyperinsulinism (HI), an autosomal recessive disease, whose relatively high frequ

176 Werner syndrome (WS) is an autosomal recessive disease with a complex phenotype tha

177 he CFTR gene lead to Cystic Fibrosis (CF)-an autosomal recessive disease with majority of the morbidi

178 -linked Alport syndrome and individuals with autosomal recessive disease with renin-angiotensin syste

179 Urofacial syndrome (UFS) is an autosomal recessive disease with severe dysfunctional ur

180 lved in this biosynthetic pathway trigger an autosomal recessive disease with severe neurological sym