AR mutations in 28 patients with androgen insensitivity syndrome（Prader grade 0–3）

• 作 者: Yi Wang Chunxiu Gong Xiou Wang
• 机 构: Beo',ingKeyLaboratoryforGeneticsofBirthDefects
• 出 处: 中国科学：生命科学英文版
• 发表日期: 2017年7期
• 关键词: 雄激素受体 突变谱 综合征 AR 敏感 CAIS 基因诊断 促黄体生成素 androgen insensitivity syndrome androgen re
• 基金项目: supported by the Public Health Project for Residents in Beijing （Z151100003915103）, the National Key Research and Development Program of China （2016YFC0901505）

We investigated the androgen receptor(AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome(AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenot