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Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants

BACKGROUND: Androgen insensitive syndrome (AIS) is a rare genetic disease resulting from androgen receptor (AR) mutations and one of the causes of 46, XY disorder of sexual development (DSD). This study aimed to describe the clinical features and molecular defects of 36 Chinese patients with AR vari...

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Detalles Bibliográficos
Autores principales: Zhu, Hui, Yao, Haijun, Xu, Yue, Chen, Yan, Han, Bing, Wang, Nan, Wang, Hao, Zhang, Qiang, Zhu, Wenjiao, Shi, Yuanping, Sun, Hua, Zhao, Shuangxia, Song, Huaidong, Liu, Yang, Qiao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7942007/
https://www.ncbi.nlm.nih.gov/pubmed/33750429
http://dx.doi.org/10.1186/s13023-021-01765-w