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Integrated Functional and Structural Analysis of Eleven CYP21A2 Variants of Uncertain Significance Resolves Their Pathogenic Role in Congenital Adrenal Hyperplasia

2026-01-08

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Context: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by impaired cortisol and aldosterone synthesis. While genotype-phenotype correlations are well-established for common CYP21A2 mutations, the clinical significance of rare missense variants remains a challenge, often leading to their classification as Variants of Uncertain Significan...

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Literature Corpus work: e686cfe1-7dbd-59b8-b989-990ef9c17642
DOI: 10.20944/preprints202601.0550.v1

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Integrated Functional and Structural Analysis of Eleven CYP21A2 Variants of Uncertain Significance Resolves Their Pathogenic Role in Congenital Adrenal HyperplasiaDOI 10.20944/preprints202601.0550.v1Read

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