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

1 uencing confirmed segregated consistent with autosomal recessive inheritance.

2 aneous polyarteritis nodosa, consistent with autosomal recessive inheritance.

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

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

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

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

7 inically and molecularly the condition shows autosomal recessive inheritance.

8 rohypophyseal diabetes insipidus, suggesting autosomal recessive inheritance.

9 normality, providing additional evidence for autosomal recessive inheritance.

10 The remaining three patients had presumed autosomal recessive inheritance.

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

12 Three quarters of cases show autosomal-recessive inheritance.

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

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

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

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

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

18 Those with autosomal recessive inheritance are in general much less

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

35 Autosomal recessive inheritance of mutations in SepSecS-

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

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

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

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

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

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

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

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

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

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

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

47 Autosomal-recessive inheritance, severe to profound sens

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

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

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

51 Assuming autosomal recessive inheritance, two novel sequence vari

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

53 Assuming autosomal recessive inheritance, we identify 27 genes th

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

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

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