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Article

Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children

2 Mar 2022

Abstract excerpt

Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological...

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Identifiers

PMID: 35309130
DOI: 10.3389/fgene.2022.785570

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