Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.

Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.

The management of a 1-year-old boy with Crouzonoid features is presented with a description of molecular genetic investigations that revealed a previously unreported mutation of the fibroblast growth factor receptor 2 (FGFR2) gene encoding the amino acid substitution p.Cys62Arg within the immunoglob...

Descrición completa

Detalles Bibliográficos
Main Authors: Sharma, V, Wall, SA, Lord, H, Lester, T, Wilkie, A
Formato: Journal article
Idioma:English
Publicado: 2012

Títulos similares

Títulos similares