ライフサイエンスコーパス: syndactyly

1 to abnormal phalanges, fusion of sutures and syndactyly.

2 damts9 result in fully penetrant soft-tissue syndactyly.

3 may be a candidate gene for myopia and poly/syndactyly.

4 a causative gene for AM, pituitary, and poly/syndactyly.

5 l skeletal elements and profound soft-tissue syndactyly.

6 be a root cause of common syndromic forms of syndactyly.

7 CNS ventricular dilatation and two to three syndactyly.

8 Neither child had syndactyly.

9 topods, missing phalanges and anterior digit syndactyly.

10 b-patterning defect in the form of bilateral syndactyly.

11 ia, severe mental retardation, epilepsy, and syndactyly.

12 f several digits, and only minimal cutaneous syndactyly.

13 ons of all four feet, including polydactyly, syndactyly and brachydactylia.

14 The opposite trends for severity of syndactyly and cleft palate in relation to the two mutat

15 Syndactyly and cryptophthalmos in FS are sequelae of ski

16 , including alopecia, variable expression of syndactyly and hydrocephalus.

17 been associated with AM, sometimes with poly/syndactyly and hypopituitarism.

18 d limbs, leading additionally to soft tissue syndactyly and loss of wrist elements and phalanges due

19 ons of cleft lip, CLP, lip pits, skin-folds, syndactyly and oral adhesions which arise as the result

20 se mice developed extensive limb soft tissue syndactyly and postaxial polydactyly.

21 icant differences were found for severity of syndactyly and presence of cleft palate.

22 em disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of

23 ormation usually comprising cryptophthalmos, syndactyly and renal defects.

24 retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypoge

25 e (exencephaly), failure of digit septation (syndactyly), and dysmorphogenesis of the placental labyr

26 Furthermore, fetuses had hemorrhages, syndactyly, and amputation of limbs, similar to human AB

27 oplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.

28 row nose, short palpebral fissures, type III syndactyly, and dental abnormalities including generaliz

29 ocephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a

30 d genitourinary tract, including digit loss, syndactyly, and hypospadias.

31 characterized by cryptophthalmus, cutaneous syndactyly, and other malformations resulting from mutat

32 postaxial polydactyly), as well as cutaneous syndactyly between all the digits.

33 MD and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities.

34 Analysis of a large family with type III syndactyly, but atypical facial features, further sugges

35 uitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay.

36 es, including hypertelorism, small mandible, syndactyly, clinodactyly, cleft palate, and scoliosis, w

37 efects, limb-reduction defects, polydactyly, syndactyly, diaphragmatic hernia, heart defects overall,

38 The mutant mice also exhibit syndactyly (digit fusions) of the fore- and hindlimbs.

39 In addition, we show that the syndactyly documented in Sclerosteosis is present in bot

40 polydactyly of the hindlimbs, and homozygous syndactyly ems (sne) animals are characterized by a fusi

41 play several developmental defects including syndactyly, facial dysmorphology, and a mild defect in h

42 der characterized by cardiac arrhythmias and syndactyly, highlighted unexpected roles for the L-type

43 ocessing by ADAMTS5, led to highly penetrant syndactyly in bt mice, suggesting that cleaved versican

44 enotypically variable expression that causes syndactyly in certain strains of cows.

45 p4 result in phenotypically similar forms of syndactyly in different mammalian species and that such

46 outside the "neonatal region" of Fbn2 cause syndactyly in mice.

47 double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis.

48 sting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the sy

49 ngenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet,

50 es, further suggested that isolated type III syndactyly is also located in this same region of the ge

51 e and small cartilaginous condensations, and syndactyly is associated with a complete absence of inte

52 Syndactyly is associated with a disorganized matrix, but

53 ck of interdigital cell death and associated syndactyly is related to an absence of interdigital cell

54 tral rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and apl

55 nted with severe global developmental delay, syndactyly of 2(nd) and 3(rd) toes, and severe muscle hy

56 olerance test and IQ=64, vaginal atresia and syndactyly of both feet).

57 ed mutation characterized by polydactyly and syndactyly of the forelimbs.

58 osis syndromes and is associated with severe syndactyly of the hands and feet and with central nervou

59 In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of

60 mature fusion of cranial sutures) and severe syndactyly of the hands and feet.

61 characterized by craniosynostosis and severe syndactyly of the hands and feet.

62 Apert syndrome, characterized in addition by syndactyly of the limbs, involves specific mutations at

63 lation of the middle phalanges; the webbing (syndactyly) of the palm; the direction of the fibers of

64 lydactyly were found most commonly, but also syndactyly, oligodactyly, and abnormal digit placement a

65 nderlies phenotypes such as the accompanying syndactyly or craniofacial abnormalities in the majority

66 some cases; none had clinically significant syndactyly or deviation of the great toe.

67 normalities of the hands, ie, polydactyly or syndactyly or missing a hand digit.

68 dermal hemorrhagic blisters, renal agenesis, syndactyly or polydactyly and permanent fusion of eyelid

69 in HOXD13 have been associated with type II syndactyly or synpolydactyly, and, in HOXA13, with hand-

70 lity at E14-E17 associated with exencephaly, syndactyly, placentopathy, and kidney defects, all attri

71 ve severely malformed limbs characterized by syndactyly, postaxial polydactyly, and dorsal transforma

72 yonic epidermal blistering, cryptophthalmos, syndactyly, renal defects and a range of other developme

73 e disorder characterized by cryptophthalmos, syndactyly, renal defects, and a range of other developm

74 tion is allelic to the recessive shaker-with-syndactyly (sy) locus on chromosome 18.

75 lopmental anomaly whose features include toe syndactyly, telecanthus, and anogenital and renal malfor

76 al patterning distinguish sm from many other syndactylies that result from later failure of cell deat

77 Syndactyly type III and conductive deafness can occur in

78 The syndactyly was more severe with the Pro253Arg mutation,

79 All TS individuals have syndactyly (webbing of fingers and toes).

80 Overgrowths of soft tissue and syndactyly were also observed, resulting from impaired a

81 al vessel number inhibited PCD, resulting in syndactyly, whereas an increment in vessel number and di

82 Type III syndactyly, which occurs as part of ODD, has also been r

83 ally characterized by 3/4 finger and 4/5 toe syndactyly with associated duplicated digits; hands and