Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Non-allelic homologous recombination events on chromosome 22q11.2 during meiosis can result in either the deletion (22q11.2DS) or duplication (22q11.2DupS) syndrome. Although the spectrum and frequency of congenital heart disease (CHD) are known for 22q11.2DS, there is less known for 22q11.2DupS. We...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Hasten, Erica, McDonald-McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine, Emanuel, Beverly S, Morrow, Bernice E, Racedo, Silvia E
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5961083/
https://ncbi.nlm.nih.gov/pubmed/29509905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy078
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