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1 em symptoms but an absence of frontonasal or limb malformations.
2 mechanisms at the basis of the SHFM and EEC limb malformations.
3 dromic hearing loss, craniofacial defects or limb malformations.
4 birth defects including renal, ear, anal and limb malformations.
5 asis of common congenital heart diseases and limb malformations.
6 ctional interpretation of genetic studies of limb malformations.
7 ion mainly characterized by craniofacial and limb malformations.
10 nal degeneration, truncal obesity, renal and limb malformations and developmental delay, is due to dy
11 l ectodermal ridge (AER), are known to cause limb malformations and evolutionary differences in limb
13 T-box3 in development are evident by severe limb malformations and other birth defects caused by T-b
15 timing of anomalies such as external ear and limb malformations are well established in the thalidomi
16 malities; others might cause extensive upper limb malformations but less significant cardiac abnormal
17 g237Gln and Arg237Trp caused extensive upper limb malformations but less significant cardiac abnormal
18 polydactyly (SPD) is an inherited congenital limb malformation caused by mutations in the HOXD13 gene
19 y (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the ha
20 melia syndrome are considered to be distinct limb-malformation disorders characterized by various deg
21 er characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation.
22 Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter th
24 evolution, acquired regeneration capacity or limb malformations in diverse species, including humans.
25 ning transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram syndrom
26 of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydact
27 terized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, int
29 Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the auto
30 l brain injury, early sensory deprivation or limb malformation may result in atypical functional orga
31 e, to a large degree, many of the congenital limb malformations observed in the fetuses of dams admin
32 y, and only 2 of 20 individuals had heart or limb malformations of the severity predicted by the loca
35 olydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh
36 an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocogniti
39 AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog si
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