Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

Abstract Background Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malf...

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Bibliographic Details
Main Authors: Gara Samara Brajadenta, Ariestya Indah Permata Sari, Donny Nauphar, Tiar Masykuroh Pratamawati, Vincent Thoreau
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Journal of Medical Case Reports
Subjects:
Apert syndrome
FGFR2 mutation
Indonesian patient
Online Access:http://link.springer.com/article/10.1186/s13256-019-2173-x

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