Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland — experience of a clinical center

PURPOSE: The prevalence of CYP21A2 gene variants and genotype-phenotype correlations are variable among populations. The aim of this study was to characterize CYP21A2 gene variants in adult patients with classical congenital adrenal hyperplasia (CCAH) from southern Poland and to analyze genotype-phe...

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Detalles Bibliográficos
Autores principales: Kurzyńska, Anna, Skalniak, Anna, Franson, Kim, Bistika, Viola, Hubalewska-Dydejczyk, Alicja, Przybylik-Mazurek, Elwira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130175/
https://www.ncbi.nlm.nih.gov/pubmed/35079965
http://dx.doi.org/10.1007/s42000-022-00348-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130175/
https://www.ncbi.nlm.nih.gov/pubmed/35079965
http://dx.doi.org/10.1007/s42000-022-00348-z

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