POR polymorphisms are associated with 21 hydroxylase deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-021-01527-2
Abstract: 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… read more here.
Keywords: hydroxylase deficiency; deficiency; por polymorphisms;