Výsledky vyhledávání - "C. Leyva-Hernandez"

Akademický článek

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

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

Autor: Oscar F. Chacon-Camacho, M. A. Ramirez-Garcia, Juan Carlos Zenteno, C. Leyva-Hernandez, A. Cardenas-Conejo

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

Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in theEFNB1gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a femal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5f433254ea20f8d44dcb03c7cc25a78
https://doaj.org/article/d11ae94a2843476791ee20c0de042b43

Zobrazit plný text záznamu

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