Male Pseudohermaphroditism: A Case Study Of 46,Xy Disorder Of Sexual Development Using Whole-Exome Sequencing

Oxana Yu. Naumova,Sergey Yu. Rychkov,Olga V. Burenkova, Maria Yu. Solodunova, Irina V. Polyanskaya, Irina A. Arintcina,Marina A. Zhukova,Irina V. Ovchinnikova,Olga V. Zhukova,Elena L. Grigorenko

CLINICAL CASE REPORTS（2020）

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摘要

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.

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关键词

46,XY disorder of sexual development,androgen insensitivity syndrome,disease-related variant,whole-exome sequencing

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