title: Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
authors.forename: Ofer
authors.initials: O
authors.lastname: Isakov
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel.
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon 58100, Israel.
authors.forename: Lubov
authors.initials: L
authors.lastname: Blumkin
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
authors.forename: Gershon
authors.initials: G
authors.lastname: Celniker
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel; Molecular Genetic Laboratory, Wolfson Medical Center, Holon 58100, Israel.
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address: nshomron@post.tau.ac.il.
authors.forename: Noam
authors.initials: N
authors.lastname: Shomron
mesh_terms: D002675:Child, Preschool; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D059472:Exome; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D008958:Models, Molecular; D009154:Mutation; D020417:Nystagmus, Congenital / Q000175:diagnosis / Q000235:genetics*; D011487:Protein Conformation; D013577:Syndrome; D014404:Tubulin / Q000737:chemistry / Q000235:genetics
chemical_list: C582076:TUBB4A protein, human; D014404:Tubulin