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

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

Abstract 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 neuropsychiatri...

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Autores principales: Luis E. León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M. Repetto
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Medicine
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Science
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Acceso en línea:https://doaj.org/article/2e39aa5fc72643b7af61069b62955f25
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