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

Orphanet journal of rare diseases - 9 Mar 2021

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

Abstract excerpt

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 variants and investigate the functional alterations of novel variants in vitro. MATERIAL AND METHODS: Subjects with AR...

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Identifiers

PMID: 33750429
DOI: 10.1186/s13023-021-01765-w
PMCID: PMC7942007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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