Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up

• Published in: Journal of diabetes investigation Vol. 12; no. 10; pp. 1919 - 1922
• Main Authors: Yin, Xiaofei, Liu, Jidong, Feng, Ruiying, Xu, Mingyue, Liu, Jinbo
• Format: Report
• Language: English
• Published: 01.10.2021

SHORT syndrome (short stature, hyperextensibility, ocular depression [deeply set eyes], Rieger anomaly and teething delay) is very rare, with a few cases reported in the literature. We report a case of SHORT syndrome with a novel PIK3R1 mutation (c.2008delT) and complicated with severe insulin resis...