نتایج جستجو برای: apert syndrome
تعداد نتایج: 621953 فیلتر نتایج به سال:
Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the pathogenesis of this condition, we generated a knock-in mouse model with this mutation. The Fgfr2(+/S252W) mutant mice have abnormalities of the skeleton, as well as ...
Apert syndrome is a congenital type 1 acrocephalosyndactyly characterized by craniosynostosis, dysmorphic facial features and symmetrical syndactyly. There premature fusion of cranial sutures which leads to restriction intracranial orbital space expansion giving characteristic appearance. We are reporting two cases different age groups from ophthalmic point view, with sets ocular manifestation....
Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes ma...
Apert syndrome is caused by mutations in fibroblast growth factor receptor 2 (Fgfr2) and is characterized by craniosynostosis and other skeletal abnormalities. The Apert syndrome Fgfr2+/S252W mouse model exhibits perinatal lethality. A 3D hydrogel culture model, derived from tissue engineering strategies, was used to extend the study of the effect of the Fgfr2+/S252W mutation in differentiating...
BACKGROUND Craniosynostosis can be caused by both genetic and environmental factors, the relative contributions of which vary between patients. Genetic testing identifies a pathogenic mutation or chromosomal abnormality in ∼ 21% of cases, but it is likely that further causative mutations remain to be discovered. OBJECTIVE To identify a shared signature of genetically determined craniosynostos...
Apert syndrome is a birth defect caused by mutation of either of two specific base pairs. The syndrome occurs at a rate of about 1 in 200,000 live births, much higher than the estimated 1 in 100,000,000 expected from the average estimated human mutation rate. Mutation rates do vary significantly across the genome (e.g. “hot spots”); but such a large variation is still very unexpected. It has al...
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