title: CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
authors.affiliation: Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, 48 boulevard Serurier, 75019 Paris, France.
authors.forename: Boris
authors.initials: B
authors.lastname: Keren
authors.forename: Oscar T
authors.initials: OT
authors.lastname: Suzuki
authors.forename: Marion
authors.initials: M
authors.lastname: Gérard-Blanluet
authors.forename: Dominique
authors.initials: D
authors.lastname: Brémond-Gignac
authors.forename: Monique
authors.initials: M
authors.lastname: Elmaleh
authors.forename: Luigi
authors.initials: L
authors.lastname: Titomanlio
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D043170:Collagen Type XVIII / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000294:innervation; D006222:Hamartoma / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009216:Myopia / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D013577:Syndrome
chemical_list: D043170:Collagen Type XVIII; D022821:RNA Splice Sites