Article
[Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene].
Problemy endokrinologii - 12 Dec 2020
Kalinchenko N Y, Tiulpakov A N
Abstract excerpt
Disorders of sex development (DSDs) are congenital conditions in which phenotype does not correspond to chromosomal and gonadal sex. To date, the etiology of DSD is established only in half of the cases. With the development of modern methods of molecular genetic diagnostics in the last decade, a number of new regulators of gonad differentiation have been discovered, whose expression disorders can lead to DSD....
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