نتایج جستجو برای: preaxial polydactyly
تعداد نتایج: 1274 فیلتر نتایج به سال:
Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly
Whole genome resequencing reveals an association of ABCC4 variants with preaxial polydactyly in pigs
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch (Ssq). The genetic lesions in both lie within the same respective...
The ZRS enhancer, a regulatory sequence found in numerous organisms, plays an important role early embryonic limb development. controls the expression of Sonic Hedgehog gene (Shh), and therefore development organism as Shh has been shown to control width bud by stimulating mesenchyme cell proliferation due its ability regulate anterior-posterior length apical ectodermal ridge. Several transcrip...
Anterior-posterior (A-P) patterning of the vertebrate limb is controlled by sonic hedgehog (SHH) signaling, and the precise restriction of Shh expression to the posterior limb bud is essential for its polarizing effect. Fibroblast growth factor (FGF) signaling, a key control of proximal-distal (P-D) limb outgrowth, is known to promote Shh expression in the posterior limb bud. Here, we show that...
Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and thenar weakness, while the postaxial digits were least affected. According to the classification...
UNLABELLED Neuroglial heterotopia is a rare congenital anomaly that mostly involves the head and neck region. We report a female fetus with multicentric paraspinal neuroglial heterotopia in the retropharyngeal and retroperitoneal spaces, right renal agenesis, left renal hypoplasia, and Müllerian agenesis. Additional findings included bilateral preaxial polydactyly of the hands, megacystis, rect...
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