title: SCA27 is a cause of early-onset ataxia and developmental delay.
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France. Electronic address: marc.planes@chu-guadeloupe.fr.
authors.forename: Marc
authors.initials: M
authors.lastname: Planes
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Vuillaume
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.
authors.forename: Lucie
authors.initials: L
authors.lastname: Besnard
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Bouron
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.
authors.forename: Benoit
authors.initials: B
authors.lastname: Arveiler
authors.affiliation: CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
mesh_terms: D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000209:etiology / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
chemical_list: C112971:fibroblast growth factor 14; D005346:Fibroblast Growth Factors