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Genetics of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with over 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is...

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Bibliographic Details
Published in:Best Pract Res Clin Endocrinol Metab
Main Authors: Hannah-Shmouni, Fady, Chen, Wuyan, Merke, Deborah P.
Format: Artigo
Language:Inglês
Published: 2009
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5576025/
https://ncbi.nlm.nih.gov/pubmed/19500762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.beem.2008.10.014
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