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Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.


ABSTRACT: The study shows that whole-exome sequencing is a promising approach to detect novel variants-and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.

SUBMITTER: Naumova OY 

PROVIDER: S-EPMC7752474 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature