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

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

Abstract 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...

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Bibliographic Details
Main Authors: Hui Zhu, Haijun Yao, Yue Xu, Yan Chen, Bing Han, Nan Wang, Hao Wang, Qiang Zhang, Wenjiao Zhu, Yuanping Shi, Hua Sun, Shuangxia Zhao, Huaidong Song, Yang Liu, Jie Qiao
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Androgen insensitive syndrome (AIS)
Androgen receptor (AR) mutation
Disorder/differences of sex development (DSD)
Functional assay
Online Access:https://doi.org/10.1186/s13023-021-01765-w

Internet

https://doi.org/10.1186/s13023-021-01765-w

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