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

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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in Chilean patients with 22q11.2DS___COMPLETO.pdf (1.65 MB)

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2017

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Artículo

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Artículos Medicina y Ciencias de la Salud

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56

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3
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Nature

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http://hdl.handle.net/11447/1668
 http://dx.doi.org/10.1038/s41598-017-01896-w

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8

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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 chromoso...

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Citation

León LE, Benavides F, Espinoza K, Vial C, Alvarez P, Palomares M, Lay-Son G, Miranda M, Repetto GM. Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients. Sci Rep. 2017 May 11;7(1):1795. doi: 10.1038/s41598-017-01896-w.

Keywords

Gene regulatory networks , Genome-wide association studies

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