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POR polymorphisms are associated with 21 hydroxylase deficiency

PURPOSE: Genotype–phenotype correlation in congenital 21 hydroxylase deficiency is strong but by no means absolute. Indeed, clinical and hormonal features may vary among patients carrying similar CYP21A2 mutations, suggesting that modifier genes may contribute to the phenotype. Aim of the present st...

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Detalles Bibliográficos
Autores principales:	Pecori Giraldi, F., Einaudi, S., Sesta, A., Verna, F., Messina, M., Manieri, C., Menegatti, E., Ghizzoni, L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421294/ https://www.ncbi.nlm.nih.gov/pubmed/33666875 http://dx.doi.org/10.1007/s40618-021-01527-2

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