Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report
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چکیده
منابع مشابه
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
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 ...
متن کاملPresence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
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...
متن کاملApert Syndrome: A Case Report
Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.
متن کاملFGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.
Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and t...
متن کاملThe study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model.
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...
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ژورنال
عنوان ژورنال: Journal of Oral Biology and Craniofacial Research
سال: 2017
ISSN: 2212-4268
DOI: 10.1016/j.jobcr.2016.07.002