A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia

Background: Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal steroidogenesis disorders with variable degrees of glucocorticoid, mineralocorticoid and sex steroid deficiencies. CYP11A1 gene encodes the mitochondrial cholesterol side-chain cleavage enzyme (P450scc), which initi...

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Auteurs principaux:	Kheloud M. Alhamoudi, Meshael Alswailem, Balgees Alghamdi, Abdullah Alashwal, Ali S. Alzahrani
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2024-08-01
Collection:	Heliyon
Sujets:	Congenital adrenal hyperplasia CYP11A1 Missense variant Whole exome sequencing, Disorders of sex development
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2405844024110894
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