Open AccessMale pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole‐exome sequencing
Author(s) -
Naumova Oxana Yu.,
Rychkov Sergey Yu.,
Burenkova Olga V.,
Solodunova Maria Yu.,
Polyanskaya Irina V.,
Arintcina Irina A.,
Zhukova Marina A.,
Ovchinnikova Irina V.,
Zhukova Olga V.,
Grigorenko Elena L.
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3286
Subject(s) - male pseudohermaphroditism , exome sequencing , medicine , disorders of sex development , exome , genetics , gene , computational biology , bioinformatics , endocrinology , biology , mutation
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.