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Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in CYP21A2 gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The CYP21A2 gene is located on the long arm...

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Detalles Bibliográficos
Autores principales:	Paragliola, Rosa Maria, Perrucci, Alessia, Foca, Laura, Urbani, Andrea, Concolino, Paola
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267771/ https://www.ncbi.nlm.nih.gov/pubmed/35807105 http://dx.doi.org/10.3390/jcm11133818

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