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...

Full description

Autores:

Torres, Lilian Andrea
Hernández, Gualberto
Barrera, Alejandro
Ospina, Sandra
Prada, Rolando

Tipo de recurso:

Article of journal

Fecha de publicación:

2015

Institución:

Fundación Universitaria de Ciencias de la Salud - FUCS

Repositorio:

Repositorio Digital Institucional ReDi

Idioma:

eng
spa

OAI Identifier:

oai:repositorio.fucsalud.edu.co:001/1499

Acceso en línea:

https://doi.org/10.25100/cm.v46i3.1868
https://repositorio.fucsalud.edu.co/handle/001/1499

Palabra clave:

Apert syndrome
cleft palate
Mutation
FGFR2 gene
Intron
Intrones
Acrocefalosindactilia
Fisura del paladar
Receptor Tipo 2 de factor de crecimiento de fibroblastos
Mutación

Rights

openAccess

License

Atribución-NoComercial 4.0 Internacional (CC BY-NC 4.0)