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

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 malformation...

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Detalles Bibliográficos
Autores principales:	Brajadenta, Gara Samara, Sari, Ariestya Indah Permata, Nauphar, Donny, Pratamawati, Tiar Masykuroh, Thoreau, Vincent
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685243/ https://www.ncbi.nlm.nih.gov/pubmed/31387623 http://dx.doi.org/10.1186/s13256-019-2173-x

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