Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of <i>CYP21A2</i> Gene

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects. The most common variant of CAH, 21-hydroxylase deficiency (21OHD), is the result of pathogenic variants in the <i...

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Hlavní autor:	Paola Concolino
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2024-05-01
Edice:	Current Issues in Molecular Biology
Témata:	congenital adrenal hyperplasia (CAH) 21-hydroxylase deficiency (21OHD) molecular diagnosis <i>CYP21A2</i> RCCX CNV
On-line přístup:	https://www.mdpi.com/1467-3045/46/5/291
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