title: Novel L1CAM splice site mutation in a young male with L1 syndrome.
authors.forename: Malin
authors.initials: M
authors.lastname: Rehnberg
authors.forename: Jon
authors.initials: J
authors.lastname: Jonasson
authors.forename: Cecilia
authors.initials: C
authors.lastname: Gunnarsson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics; D013577:Syndrome
chemical_list: D039842:Neural Cell Adhesion Molecule L1; D022821:RNA Splice Sites