SHORT syndrome in two Chinese girls: A case report and review of the literature

ConclusionWe identified two de novo heterozygous mutations inPIK3R1 as the cause of SHORT syndrome in two Chinese girls. Additionally, in terms of diabetes control, metformin works well in the early treatment stage.

Source: Molecular Genetics & Genomic Medicine - June 28, 2020 Category: Genetics & Stem Cells Authors: Yanhong Zhang, Baolan Ji, Jinsheng Li, Yanying Li, Mei Zhang, Bo Ban Tags: ORIGINAL ARTICLE Source Type: research