Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Substantial research has been performed during the last decades on the clinical and genetic variability of congenital adrenal hyperplasia (CAH) and its most common form, 21-hydroxylase deficiency (21OHD). CAH is one of the most prevalent autosomal recessive diseases in humans, and it can be divided...

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Bibliographic Details
Main Authors: Mirjana Kocova, Paola Concolino, Henrik Falhammar
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Endocrinology
Subjects:
CYP21A2
c.293-13C/A>G
splicing variant
CAH
genetic counselling
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.788812/full

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