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

doi:10.3389/fendo.2021.788812

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Article

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

Frontiers in endocrinology - 1 Jan 2021

Kocova Mirjana, Concolino Paola, Falhammar Henrik

Abstract excerpt

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 divid...

Topics

Adrenal Hyperplasia, Congenital
Genotype
Humans
Introns
Phenotype
Steroid 21-Hydroxylase

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