Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a putative error of metabolism with autosomal recessive heredity pattern. The main manifestations of classic form of CAH are salt-wasting, dehydration and simple virilization in both sexes and ambiguous genitalia in female gender. 21-hyroxylase (CYP21A2) impai...

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Detalles Bibliográficos
Autores principales: Kolahdouz, Mahsa, Mohammadi, Zahra, Kolahdouz, Parisa, Tajamolian, Masoud, Khanahmad, Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617158/
https://www.ncbi.nlm.nih.gov/pubmed/26605228
http://dx.doi.org/10.4103/2277-9175.164009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617158/
https://www.ncbi.nlm.nih.gov/pubmed/26605228
http://dx.doi.org/10.4103/2277-9175.164009

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