Article

Long-read sequencing resolves the clinically relevant<i>CYP21A2</i>locus, supporting a new clinical test for Congenital Adrenal Hyperplasia

2025-02-10

Abstract excerpt

Congenital Adrenal Hyperplasia (CAH), one of the most common inherited disorders, is caused by defects in adrenal steroidogenesis. It is potentially lethal if untreated and is associated with multiple comorbidities, including fertility issues, obesity, insulin resistance, and dyslipidemia. CAH can result from variants in multiple genes, but the most frequent cause is deletions and conversions in the segmentally du...

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Literature Corpus work: ff57c569-23f2-583f-8249-0388a4497497
DOI: 10.1101/2025.02.07.25321404

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