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.

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752474/
https://www.ncbi.nlm.nih.gov/pubmed/33363845
http://dx.doi.org/10.1002/ccr3.3286

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752474/
https://www.ncbi.nlm.nih.gov/pubmed/33363845
http://dx.doi.org/10.1002/ccr3.3286

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