Neurol Genet 2021 Apr 19;7(2):e578. Epub 2021 Mar 19.
Neuro-Immunology Unit (A.W-.Y., M.A.H.), Department of Neurology (O.S., A.F., F.B.), Department of Radiology (R.E.), and Neuro-Ophthalmology Unit, Department of Ophthalmology (H.S.K.), Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel; Sackler Faculty of Medicine (O.S., E.P., H.Y., L.B.-S., L.G., H.S.-K., F.B., Y.G.), Tel Aviv University, Tel Aviv, Israel; The Raphael Recanati Genetic Institute (A.F., Y.G., L.B.-S., L.B.), Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel; The Danek Gertner Institute of Human Genetics (E.P., H.Y., L.G.), Sheba Medical Center, Tel Hashomer, Israel; The Joseph Sagol Neuroscience Center (E.P., L.G.), Sheba Medical Center, Tel Hashomer, Israel; Department of Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer, Israel; Department of Genetics and Faculty of Medicine (S.S.-R.), Hadassah-Hebrew University Hospital, Jerusalem, Israel; Felsenstein Medical Research Center (O.S., L.B.-S., F.B.), Petach Tikva, Israel.
Objective: To describe the c.1672C>T; p.R558C missense variant, found in 1. Read More