Article
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Journal of medical genetics - 1 Sept 2007
Maas Nicole M C, Van de Putte Tom, Melotte Cindy, Francis Annick, Schrander-Stumpel Constance T R M, Sanlaville Damien, Genevieve David, Lyonnet Stanislas, Dimitrov Boyan, Devriendt Koenraad, Fryns Jean-Pierre, Vermeesch Joris R
Abstract excerpt
BACKGROUND: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown. METHODS: Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution. RESULTS: In one patient, a 250 kb de novo microdeletion at 20p12.1 was detected, deleting exon 5 of C20orf133....
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