Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps
POC1A双等位基因变异会导致伴有肌肉痉挛的综合征性严重胰岛素抵抗。
期刊:European Journal of Endocrinology
影响因子:5.2
doi:10.1530/EJE-21-0609
Mericq, Veronica; Huang-Doran, Isabel; Al-Naqeb, Dhekra; Basaure, Javiera; Castiglioni, Claudia; de Bruin, Christiaan; Hendriks, Yvonne; Bertini, Enrico; Alkuraya, Fowzan S; Losekoot, Monique; Al-Rubeaan, Khalid; Semple, Robert K; Wit, Jan M