GATA6 mutation causing diabetes and congenital heart disease
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA609241
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资源简介：
Case study of a patient with adult onset diabetes (diagnosed aged 21 years), pancreatic agenesis and congenital cardiac malformations. A de novo GATA6 nonsense variant, p.(Tyr235Ter), was identified confirming a diagnosis of GATA6 related diabetes, pancreatic agenesis and congenital heart disease.
本病例报告针对一名成年发病型糖尿病（21岁确诊）、胰腺发育不全合并先天性心脏畸形的患者。经检测发现1例新发GATA6无义变异p.(Tyr235Ter)，据此确诊为GATA6相关糖尿病、胰腺发育不全及先天性心脏病。
创建时间：
2020-02-28
