Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most technically challenging monogenic conditions for molecular diagnosis, owing to the complex genomic architecture of the CYP21A2 locus and the extensive homology between the functional gene and its pseudogene. Ove...

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Hlavní autoři:	Mirela Costa de Miranda, Ana Carolina Maués de Oliveira, Gabriel Junqueira Soares, Júlio Américo Pereira Batatinha, Ana Claudia Latronico, Berenice Bilharinho Mendonca, Tania A. S. S. Bachega
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-04-01
Edice:	Frontiers in Endocrinology
Témata:	21-OHD genotype congenital adrenal hyperplasia CYP21A2 molecular diagnosis long-read sequencing next-generation sequencing
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fendo.2026.1770274/full
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