Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%–95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassic...

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Detalles Bibliográficos
Autores principales: Taboas, Melisa, Fernández, Cecilia, Belli, Susana, Buzzalino, Noemi, Alba, Liliana, Dain, Liliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722967/
https://www.ncbi.nlm.nih.gov/pubmed/23936690
http://dx.doi.org/10.1155/2013/143781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722967/
https://www.ncbi.nlm.nih.gov/pubmed/23936690
http://dx.doi.org/10.1155/2013/143781

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