Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

INTRODUCTION: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal...

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Detalles Bibliográficos
Autores principales: Torres, Lilian, Hernández, Gualberto, Barrera, Alejandro, Ospina, Sandra, Prada, Rolando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640438/
https://www.ncbi.nlm.nih.gov/pubmed/26600631

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