Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

ABSTRACT Background Although there a well‐known correlation in genotype and phenotype, patients with 21‐OHD caused by severe pathogenic variants have better correlation, whereas inconsistencies are more common in the presence of milder variants. This study aimed to evaluate CYP21A2 genotyping and re...

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Bibliographic Details
Main Authors: Nurgul Atas, Murat Karaoglan, Gülper Nacarkahya
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:Molecular Genetics & Genomic Medicine
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Online Access:https://doi.org/10.1002/mgg3.70110
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