Genotype-phenotype correlation in patients with 21-hydroxylase deficiency

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency

Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations.MethodsA total of 15 individuals from three unrelate...

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Bibliographic Details
Main Authors: Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Endocrinology
Subjects:
congenital adrenal hyperplasia
21OHD
genotype
phenotype
CYP21A2
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1095719/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1095719/full

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