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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593202/
https://www.ncbi.nlm.nih.gov/pubmed/26293599
http://dx.doi.org/10.1186/s12881-015-0211-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593202/
https://www.ncbi.nlm.nih.gov/pubmed/26293599
http://dx.doi.org/10.1186/s12881-015-0211-0

Ejemplares similares