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The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

BMJ case reports

Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR.
PMID: 21720541
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.06.2009.1994. Epub 2009 Jun 30.

Kabuki syndrome (KS) is a rare, congenital mental retardation syndrome. The aetiology of KS remains unknown. Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution. In one patient,...

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