Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.
Yanfei WangXiaoyu XiaoQiuqiu LinRong SongXiaozhou WangYiji LiangJingsong ChenXiaojun LuanZhiguang ZhouYang XiaoYao-Ming XueJingyi HuPublished in: Journal of diabetes investigation (2023)
Hypomagnesemia is highly prevalent in individuals with HNF1B syndrome, and those with HNF1B deletion are more susceptible to developing hypomagnesemia compared with those with intragenic mutations. The genotype-phenotype associations in HNF1B syndrome have significant implications for endocrinologists in terms of genotype detection, treatment decisions and prognosis assessment.