X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
Fransen
E
E
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
Schrander-Stumpel
C
C
Vits
L
L
Coucke
P
P
Van Camp
G
G
Willems
P J
PJ
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*