The C20orf133 gene is disrupted in a patient with Kabuki syndrome

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, a 250 kb de novo microdelet...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3029272/
https://ncbi.nlm.nih.gov/pubmed/21720541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.06.2009.1994
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