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

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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Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7752474/
https://ncbi.nlm.nih.gov/pubmed/33363845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3286
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