Article
SHORT syndrome in two Chinese girls: A case report and review of the literature.
Molecular genetics & genomic medicine - 1 Sept 2020
Zhang Yanhong, Ji Baolan, Li Jinsheng, Li Yanying, Zhang Mei, Ban Bo
Abstract excerpt
BACKGROUND: SHORT syndrome is a rare inherited multisystem disease that includes characteristic facial features, growth retardation, and metabolic anomalies and is related to heterozygous mutations in the PIK3R1 gene. However, it is difficult to ascertain the relationship between the phenotype and the genotype quickly and efficiently. METHODS: We report two Chinese girls with SHORT syndrome who presented with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.