A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

• Príomhchruthaitheoirí: Liying Sun (Údar), Qianwen Zhang (Údar), Qun Li (Údar), Yijun Tang (Údar), Yirou Wang (Údar), Xin Li (Údar), Niu Li (Údar), Jian Wang (Údar), Xiumin Wang (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2020-10-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract 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 PIK...