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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Original Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados