Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
SLC30A5 变异影响 ZnT5 锌转运蛋白的功能,导致新生儿严重肌张力低下。
期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12465
Dolgin, Vadim; Chabosseau, Pauline; Bistritzer, Jacob; Noyman, Iris; Staretz-Chacham, Orna; Wormser, Ohad; Hadar, Noam; Eskin-Schwartz, Marina; Kanengisser-Pines, Bibi; Narkis, Ginat; Abramsky, Ramy; Shany, Eilon; Rutter, Guy A; Marks, Kyla; Birk, Ohad S