New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
新一批CEDNIK综合征患者扩展了表型和基因型谱
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000553
Mah-Som, Annelise Y; Skrypnyk, Cristina; Guerin, Andrea; Seroor Jadah, Raafat Hammad; Vardhan, Vinayak Nivrutti; McKinstry, Robert C; Shinawi, Marwan S