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Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

Functional and Structural Consequences of a Novel Point Mutation in the<i>CYP21A2</i>Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction

Functional and Structural Consequences of a Novel Point Mutation in theCYP21A2Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction