Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, and urogenital abnormalities. AAS is caused by mutations in the FGD1 gene (Xp11.22), with over 56 different...

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Publicat a:Mol Genet Genomic Med
Autors principals: Pérez-Coria, Mariana, Lugo-Trampe, José J, Zamudio-Osuna, Michell, Rodríguez-Sánchez, Iram P, Lugo-Trampe, Angel, de la Fuente-Cortez, Beatriz, Campos-Acevedo, Luis D, Martínez-de-Villarreal, Laura E
Format: Artigo
Idioma:Inglês
Publicat: BlackWell Publishing Ltd 2015
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4444161/
https://ncbi.nlm.nih.gov/pubmed/26029706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.132
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