Article
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
American journal of human genetics - 4 May 2017
Zhang Qilin, Peng Cheng, Song Jianping, Zhang Yichao, Chen Jianhua, Song Zhijian, Shou Xuefei, Ma Zengyi, Peng Hong, Jian Xuemin, He Wenqiang, Ye Zhao, Li Zhiqiang, Wang Yongfei, Ye Hongying, Zhang Zhaoyun, Shen Ming, Tang Feng, Chen Hong, Shi Zhifeng, Chen Chunjui, Chen Zhengyuan, Shen Yue, Wang Ye, Lu Shaoyong, Zhang Jian, Li Yiming, Li Shiqi, Mao Ying, Zhou Liangfu, Yan Hai, Shi Yongyong, Huang Chuanxin, Zhao Yao
Abstract excerpt
Pituitary adenoma (PA) is one of the most common intracranial neoplasms. Several genetic predisposing factors for PA have been identified, but they account for a small portion of cases. In this study, we sought to identify the PA genetic risk factors by focusing on causative mutations for PAs. Among the 4 affected and 17 asymptomatic members from one family with familial PA, whole-exome sequencing identified...
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