Article
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.
BMC medical genetics - 31 Oct 2020
Sun Liying, Zhang Qianwen, Li Qun, Tang Yijun, Wang Yirou, Li Xin, Li Niu, Wang Jian, Wang Xiumin
Abstract excerpt
BACKGROUND: SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay,...
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