KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

BACKGROUND: Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the maj...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Moreno-Igoa, María, Hernández-Charro, Blanca, Bengoa-Alonso, Amaya, Pérez-Juana-del-Casal, Aranzazu, Romero-Ibarra, Carlos, Nieva-Echebarria, Beatriz, Ramos-Arroyo, María Antonia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4593202/
https://ncbi.nlm.nih.gov/pubmed/26293599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0211-0
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