Article
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.
Scientific reports - 11 May 2017
León Luis E, Benavides Felipe, Espinoza Karena, Vial Cecilia, Alvarez Patricia, Palomares Mirta, Lay-Son Guillermo, Miranda Macarena, Repetto Gabriela M
Abstract excerpt
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 problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the...
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