Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Q
PROVIDER: S-EPMC5420349 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Zhang Qilin Q Peng Cheng C Song Jianping J Zhang Yichao Y Chen Jianhua J Song Zhijian Z Shou Xuefei X Ma Zengyi Z Peng Hong H Jian Xuemin X He Wenqiang W Ye Zhao Z Li Zhiqiang Z Wang Yongfei Y Ye Hongying H Zhang Zhaoyun Z Shen Ming M Tang Feng F Chen Hong H Shi Zhifeng Z Chen Chunjui C Chen Zhengyuan Z Shen Yue Y Wang Ye Y Lu Shaoyong S Zhang Jian J Li Yiming Y Li Shiqi S Mao Ying Y Zhou Liangfu L Yan Hai H Shi Yongyong Y Huang Chuanxin C Zhao Yao Y
American journal of human genetics 20170413 5
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 cosegregation of the PA phenotype with the heterozygous missense mutation c.4136G>T (p.A ...[more]