title: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
authors.affiliation: Genetic Unit, SARAH Network of Rehabilitation Hospitals, SMHS 501 Conjunto A, Brasilia, Distrito Federal 70335-901, Brazil danielcarvalho@sarah.br.
authors.forename: Daniel
authors.initials: D
authors.lastname: Carvalho
authors.affiliation: Genetic Unit, SARAH Network of Rehabilitation Hospitals, SMHS 501 Conjunto A, Brasilia, Distrito Federal 70335-901, Brazil.
authors.forename: Savana
authors.initials: S
authors.lastname: Santos
authors.affiliation: Genetic Unit, SARAH Network of Rehabilitation Hospitals, SMHS 501 Conjunto A, Brasilia, Distrito Federal 70335-901, Brazil.
authors.forename: Bernardo
authors.initials: B
authors.lastname: Martins
authors.affiliation: Genetic Unit, SARAH Network of Rehabilitation Hospitals, SMHS 501 Conjunto A, Brasilia, Distrito Federal 70335-901, Brazil.
authors.forename: Fernanda Pinto
authors.initials: FP
authors.lastname: Marques
mesh_terms: D001479:Basal Ganglia / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D014404:Tubulin / Q000235:genetics*
chemical_list: D014404:Tubulin