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GENETICS OF NONCLASSIC FORM OF CONGENITAL ADRENAL HYPERPLASIA: REVIEW AND STUDY RESULTS

Koroleva E.I., Nazarov V.D., Lapin S.V., Mazing A.V., Malyshkin K.A., Lisker A.V., Wilhelmi A. A., Morozov E.I., Koshevaya N.E., Emanuel E.V.

Congenital adrenal hyperplasia (CAH) is a group of disorders caused by mutations in genes that encode steroidogenic enzymes. The most frequent form of CAH is caused by defects in CYP21A2 gene leading to 21-hydroxylase deficiency (21-OHD). There are 3 clinical …