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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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2026-04-01
Colecção:	Frontiers in Endocrinology
Assuntos:	21-OHD genotype congenital adrenal hyperplasia CYP21A2 molecular diagnosis long-read sequencing next-generation sequencing
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fendo.2026.1770274/full
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