title: X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
authors.affiliation: Department of Medical Genetics, University of Antwerp-UIA, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Fransen
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: L
authors.initials: L
authors.lastname: Vits
authors.forename: P
authors.initials: P
authors.lastname: Coucke
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001037:Aphasia / Q000235:genetics; D001483:Base Sequence; D002535:Cerebral Aqueduct / Q000002:abnormalities; D005260:Female; D005684:Gait / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014960:X Chromosome / Q000235:genetics*