A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia
钙敏感受体等位基因系列与遗传性低钙血症的漏诊
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.06.013
Chang, Jeremy B; Barnhill, Connor P; Apostolov, Alexander M; Soliai, Marcus M; Hecker, Julian; Nierenberg, Jovia L; Stapleton Smith, Lyndsay M; Mathew, Arun S; Zeng, Xue; Diao, Jiayin; Fernando, C Dilanka; Chen, Qingwen; Dulken, Ben W; Petukhov, Aleksandr; Altman, Russ; Josephs, Tracy M; Lasky-Su, Jessica A; Gorvin, Caroline M; Roberts, Mary Scott; Adler, Scott H; Fox, Jonathan C; Lange, Christoph; Ji, Sun-Gou