The C20orf133 gene is disrupted in a patient with Kabuki syndrome

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 resolutio...

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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 Group 2007
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597955/
https://ncbi.nlm.nih.gov/pubmed/17586838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049510
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