Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis

Abstract Background Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting cris...

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Bibliographic Details
Main Authors: Yossawat Suwanlikit, Bhakbhoom Panthan, Pawares Chitayanan, Sommon Klumsathian, Angkana Charoenyingwattana, Wasun Chantratita, Objoon Trachoo
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Medical Genomics
Subjects:
21 hydroxylase deficiency
Congenital adrenal hyperplasia
Genetic carrier screening
Online Access:https://doi.org/10.1186/s12920-025-02089-5
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