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

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

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

3 uencing confirmed segregated consistent with autosomal recessive inheritance.

4 aused by choline transporter deficiency with autosomal recessive inheritance.

5 aneous polyarteritis nodosa, consistent with autosomal recessive inheritance.

6 sion, especially a germinal mosaicism and an autosomal recessive inheritance.

7 Pedigree analysis suggested an autosomal recessive inheritance.

8 ), a paediatric neurodegenerative disease of autosomal recessive inheritance.

9 ognizable lethal syndromic polymicrogyria of autosomal recessive inheritance.

10 s in the DJ-1 gene cause early onset PD with autosomal recessive inheritance.

11 inically and molecularly the condition shows autosomal recessive inheritance.

12 rohypophyseal diabetes insipidus, suggesting autosomal recessive inheritance.

13 normality, providing additional evidence for autosomal recessive inheritance.

14 The remaining three patients had presumed autosomal recessive inheritance.

15 were identified in affected individuals with autosomal recessive inheritance.

16 ly with segregation patterns consistent with autosomal recessive inheritance.

17 e unrelated multiplex families with presumed autosomal recessive inheritance.

18 inheritance with reduced penetrance, and/or autosomal recessive inheritance.

19 ophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance.

20 Three quarters of cases show autosomal-recessive inheritance.

21 with classical BBS that is transmitted with autosomal-recessive inheritance.

22 ne to be linked to a Mendelian disorder with autosomal-recessive inheritance.

23 Ninety genes were associated with autosomal recessive inheritance, 16 were maternally inhe

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

25 egation of these alleles was consistent with autosomal recessive inheritance and complete clinical pe

26 lex V deficiency, typically characterized by autosomal recessive inheritance and multisystem phenotyp

27 reveld syndrome is a similar condition, with autosomal recessive inheritance and the additional featu

28 Those with autosomal recessive inheritance are in general much less

29 ercent of patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenic

30 patterns in all families are consistent with autosomal recessive inheritance excluding any evidence o

31 Most cases are sporadic, but autosomal recessive inheritance has been described.

32 A novel peripheral neuropathy of autosomal recessive inheritance has been identified in B

33 rait, although sporadic cases are common and autosomal recessive inheritance has been reported.

34 nsmitted as an autosomal-dominant trait, but autosomal-recessive inheritance has also been reported.

35 mplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described.

36 eport here a novel rare variant of dHMN with autosomal recessive inheritance in a large Jewish family

37 tified several MMAF-associated genes with an autosomal recessive inheritance in human affected indivi

38 hildren and 21 female individuals (53%) with autosomal recessive inheritance indicated by the detecti

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

40 have identified a consanguineous family with autosomal recessive inheritance of a bleeding disorder t

41 This phenotype is due to the autosomal recessive inheritance of a single gene on mous

42 nded multiplex pedigrees displaying apparent autosomal recessive inheritance of an uncharacterized sk

43 Autosomal recessive inheritance of deleterious STX11 var

44 ses a part of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair

45 cases of SCID result from either X-linked or autosomal recessive inheritance of mutations in a known

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

47 Autosomal recessive inheritance of mutations in SepSecS-

48 ative disorders of childhood, resulting from autosomal recessive inheritance of mutations in the CLN3

49 amilial occurrence and consanguinity suggest autosomal recessive inheritance of this distinct entity.

50 atives were not affected as an indication of autosomal recessive inheritance of this mutation.

51 both dominant and recessive alleles, but an autosomal recessive inheritance pattern is much more com

52 se with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus c

53 We have identified a large AF family with an autosomal recessive inheritance pattern.

54 t visible ocular defects, consistent with an autosomal recessive inheritance pattern.

55 lethal variant of epidermolysis bullosa with autosomal recessive inheritance pattern.

56 d with wild-type participants, supporting an autosomal recessive inheritance pattern.

57 To date, only an autosomal-recessive inheritance pattern has been describ

58 Although an autosomal-recessive inheritance pattern has been hypothe

59 s in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority

60 ture of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome

61 Autosomal-recessive inheritance, severe to profound sens

62 hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described

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

64 nter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features o

65 he first human disease gene characterized by autosomal recessive inheritance to be identified as a re

66 Assuming autosomal recessive inheritance, two novel sequence vari

67 family and thus would be expected to show an autosomal recessive inheritance, was subjected to clinic

68 Assuming autosomal recessive inheritance, we identify 27 genes th

69 othesis of a rare inborn immunodeficiency of autosomal recessive inheritance, we sought to characteri

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

71 fied in 6 families that were consistent with autosomal recessive inheritance with a single mutation i

72 erozygous for the A334T allele, establishing autosomal recessive inheritance within families.