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.
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Naumova, O. Y., Rychkov, S. Y., Burenkova, O. V., Solodunova, M. Y., Polyanskaya, I. V., Arintcina, I. A., … Grigorenko, E. L. (2020). Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing. Clinical Case Reports, 8(12), 2889–2894. https://doi.org/10.1002/ccr3.3286
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