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Article

Genetics of congenital adrenal hyperplasia.

Best practice & research. Clinical endocrinology & metabolism - 1 Apr 2009

Krone Nils, Arlt Wiebke

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic cytochrome P450 (CYP) type II enzymes. The biochemical and clinical...

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Source

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Identifiers

PMID: 19500762
DOI: 10.1016/j.beem.2008.10.014
PMCID: PMC5576025

Genes

POR

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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