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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Best Pract Res Clin Endocrinol Metab
Prif Awduron: Hannah-Shmouni, Fady, Chen, Wuyan, Merke, Deborah P.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2009
Pynciau:
Mynediad Ar-lein: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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