Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5–3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problem...

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Detalles Bibliográficos
Autores principales: León, Luis E., Benavides, Felipe, Espinoza, Karena, Vial, Cecilia, Alvarez, Patricia, Palomares, Mirta, Lay-Son, Guillermo, Miranda, Macarena, Repetto, Gabriela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431949/
https://www.ncbi.nlm.nih.gov/pubmed/28496102
http://dx.doi.org/10.1038/s41598-017-01896-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431949/
https://www.ncbi.nlm.nih.gov/pubmed/28496102
http://dx.doi.org/10.1038/s41598-017-01896-w

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