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

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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Bibliographic Details
Main Authors: Kolahdouz, Mahsa, Mohammadi, Zahra, Kolahdouz, Parisa, Tajamolian, Masoud, Khanahmad, Hossein
Format: Online
Language:English
Published: Medknow Publications & Media Pvt Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617158/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617158/

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