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.

Na minha lista:
Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Reports
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados