نتایج جستجو برای: radial polydactyly
تعداد نتایج: 62619 فیلتر نتایج به سال:
BACKGROUND Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. OBJECTIVE To characterise the genotypic and phenotypic findings in individuals with GLI2 variants and clarify clinical findings in individuals with loss-o...
Polydactyly is a most common congenital hand defects in which the hand has one or more extra fingers, commonly seen postaxial, that is, on the small finger side. It is usually treated by surgically removing the extra finger typically, when the child is between 1 and 2 years old. Prognosis after removal of extra digit is good if it occurs in isolation though not devoid of complications like scar...
BACKGROUND: Ciliopathies include the large group of hereditary diseases caused by mutations in genes encoding primary cilia components. The largest type skeletal ciliopathies is short-rib thoracic dysplasia.
 AIM: This study describes clinical and genetic characteristics Russian patients with STRD or without polydactyly DYNC2H1, DYNC2I2, IFT80, IFT140.
 MATERIALS AND METHODS: A compre...
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