A rare case of PIK3R1 gene mutation associated SHORT syndrome - Zhang, X; Lin, L W H; Xie, L; Chen, K N; Quan, H B (Chung-hua nei kʿo tsa chih, 2025)
Keywords: Adolescent; Class Ia Phosphatidylinositol 3-Kinase - genetics; Fetal Growth Retardation - diagnosis; Fetal Growth Retardation - genetics; Growth Disorders - diagnosis; Growth Disorders - genetics; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Humans; Hypercalcemia; Insulin Resistance; Lipodystrophy - diagnosis; Lipodystrophy - genetics; Male; Metabolic Diseases; Mutation; Nephrocalcinosis; Phosphatidylinositol 3-Kinases - genetics