title: OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
authors.forename: C
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: S
authors.initials: S
authors.lastname: Thomas
authors.forename: M
authors.initials: M
authors.lastname: Sinico
authors.forename: B
authors.initials: B
authors.lastname: Aral
authors.forename: L
authors.initials: L
authors.lastname: Burglen
authors.forename: N
authors.initials: N
authors.lastname: Gigot
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: S
authors.initials: S
authors.lastname: Rossignol
authors.forename: M
authors.initials: M
authors.lastname: Raynaud
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: C
authors.initials: C
authors.lastname: Badens
authors.forename: R
authors.initials: R
authors.lastname: Touraine
authors.forename: C
authors.initials: C
authors.lastname: Gomes
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: E
authors.initials: E
authors.lastname: Lopez
authors.forename: N
authors.initials: N
authors.lastname: Elkhartoufi
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: N
authors.initials: N
authors.lastname: Boddaert
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: F
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: E
authors.initials: E
authors.lastname: Escudier
authors.forename: T
authors.initials: T
authors.lastname: Attié-Bitach
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D064652:Basal Bodies / Q000378:metabolism / Q000473:pathology*; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000378:metabolism / Q000473:pathology*; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D009958:Orofaciodigital Syndromes / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D055815:Young Adult
chemical_list: C115130:OFD1 protein, human; D011506:Proteins