SHORT syndrome in two Chinese girls: A case report and review of the literature.
Yanhong ZhangBaolan JiJinsheng LiYanying LiMei ZhangBo BanPublished in: Molecular genetics & genomic medicine (2020)
We identified two de novo heterozygous mutations in PIK3R1 as the cause of SHORT syndrome in two Chinese girls. Additionally, in terms of diabetes control, metformin works well in the early treatment stage.