title: Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins.
authors.affiliation: Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal. rmma22@gmail.com.
authors.forename: Rui
authors.identifier: http://orcid.org/0000-0002-3610-3437
authors.initials: R
authors.lastname: Araújo
authors.affiliation: Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Garabal
authors.affiliation: Department of Medical Imaging, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Mariana
authors.initials: M
authors.lastname: Baptista
authors.affiliation: Department of Medical Imaging, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Sílvia
authors.initials: S
authors.lastname: Carvalho
authors.affiliation: Department of Medical Pediatrics, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Crisbety
authors.initials: C
authors.lastname: Pinho
authors.affiliation: Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Joaquim
authors.initials: J
authors.lastname: de Sá
authors.affiliation: Child Development Center, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Mónica
authors.initials: M
authors.lastname: Vasconcelos
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D019150:Neuroaxonal Dystrophies / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics*; D014430:Twins, Monozygotic
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human