Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

Abstract Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production. There is a continuum of phenotypes which generally correlate with genotype and the expecte...

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Bibliographic Details
Main Authors: Qizong Lao, Deepika D. Burkardt, Sarah Kollender, Fabio R. Faucz, Deborah P. Merke
Format: Article
Language:English
Published: Wiley 2023-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
21‐hydroxylase deficiency
CAH
chimera
congenital adrenal hyperplasia
CYP21A2
Online Access:https://doi.org/10.1002/mgg3.2195

Internet

https://doi.org/10.1002/mgg3.2195

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