A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de no...

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Main Authors: Ramirez-Garcia, M. A., Chacon-Camacho, O. F., Leyva-Hernandez, C., Cardenas-Conejo, A., Zenteno, J. C.
Formato: Artigo
Idioma:Inglês
Publicado: Hindawi Publishing Corporation 2013
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3594931/
https://ncbi.nlm.nih.gov/pubmed/23509643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/349725
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