Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes
SENP7基因双等位基因功能缺失变异导致免疫缺陷,并伴有神经系统和肌肉表型。
期刊:Journal of Pediatrics
影响因子:3.5
doi:10.1016/j.jpeds.2024.114180
Kobayashi, Erica Sanford; Lotan, Nava Shaul; Schejter, Yael Dinur; Makowski, Christine; Kraus, Verena; Ramchandar, Nanda; Meiner, Vardiella; Thiffault, Isabelle; Farrow, Emily; Cakici, Julie; Kingsmore, Stephen; Wagner, Matias; Rieber, Nikolaus; Bainbridge, Matthew