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1 of the vertex scalp and transverse terminal limb defects.
2 lts in brain, craniofacial, genital, ear and limb defects.
3 ppendages, as well as orofacial clefting and limb defects.
4 no human cells were detected in the control limb defects.
5 he similarity of individuals with OS and HOS limb defects.
6 hus placing Tbx5 upstream of Hh-signaling in limb defects.
7 ysplasia with ichthyosiform erythroderma and limb defects.
8 ac, vertebral, tracheo-esophageal, renal and limb defects.
9 ologous chromosomal region and cause similar limb defects.
10 anation for the origins of proximally biased limb defects.
11 revalent craniofacial anomalies and variable limb defects.
12 a cutis of the scalp and terminal transverse limb defects.
13 with other craniofacial anomalies and severe limb defects.
14 l hemidysplasia with ichthyosiform nevus and limb defects), an X-linked, male lethal disorder, as wel
18 mal dominant disorder characterized by upper limb defects, apocrine-gland defects including mammary h
19 etuses of the C57BL/6 mouse strain, while no limb defects are observed in the identically treated SWV
21 emonstrate that the dominant mouse and human limb defects arise from gain-of-function mutations and n
22 ysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), hydrops-ectopic calcifica
23 ysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, an X-linked dominant diso
24 enital disorders present with both heart and limb defects, consistent with common genetic pathways.
26 s, in addition to their exacerbated proximal limb defects, exhibit novel and severe distal abnormalit
27 e Shh limb enhancer lead to similar anterior limb defects, highlight the importance of Shh repression
30 a critical window of development results in limb defects in humans and non-human primates while mice
31 am syndrome (HOS), which is characterized by limb defects in humans, but the underlying mechanistic b
33 but pups born at term displayed craniofacial/limb defects in response to higher doses (approximately
34 We find that loss of Draf activity causes limb defects, including pattern duplications, consistent
35 middle-ear defects, cleft palate, cleft lip, limb defects, limb-reduction defects, polydactyly, synda
36 PE with strain-specific severity and without limb defects, modeling human HPE and implicating modifie
39 Wnt7a inactivation to completely correct the limb defects of Dkk1d/dEn1-/- double mutants indicates t
40 r frameshift mutations in TBX5 had heart and limb defects of similar severity, and only 2 of 20 indiv
41 y of TBX5 are purported to cause cardiac and limb defects of similar severity, whereas missense mutat
42 as associated with marked pre- and postaxial limb defects, particularly in the hind limb, where expre
43 Tbx4 during later limb outgrowth produces no limb defects, revealing a brief developmental requiremen
44 rafish causes fin defects reminiscent of the limb defects seen in children exposed to thalidomide in
45 ith impaired Shh signaling, but were without limb defects, suggesting a CNS-specific role of Tmem161b
46 ysplasia with ichthyosiform erythroderma and limb defects] syndrome, n = 2) and from plaque psoriasis
47 (-/-) mice have more severe craniofacial and limb defects than Dlx5(-/-), some of which are potential
48 on 1 of the Hoxa13 gene and have more severe limb defects than mice with an engineered deletion of th
49 Grem1 and Lrp6 mutations display more severe limb defects than single mutants alone, while Sost(-/-)
50 of T-box3 disrupts limb initiation, causing limb defects that phenocopy Sonic Hedgehog (Shh) mutants
51 o-mutation in Tbx5 heterozygotes rescued the limb defects, thus placing Tbx5 upstream of Hh-signaling