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

Autor: M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno

Publikováno v: Case Reports in Genetics, Vol 2013 (2013)

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 fem

Externí odkaz: https://doaj.org/article/d11ae94a2843476791ee20c0de042b43

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

Autor: Ramirez-Garcia MA; Genetics Department, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Cuauhtémoc 330, Colonia Doctores, 06720 México, DF, Mexico., Chacon-Camacho OF, Leyva-Hernandez C, Cardenas-Conejo A, Zenteno JC

Publikováno v: Case reports in genetics [Case Rep Genet] 2013; Vol. 2013, pp. 349725. Date of Electronic Publication: 2013 Feb 21.