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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2021
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Materias: | |
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 |