Article
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
Human molecular genetics - 1 Jun 2018
Hasten Erica, McDonald-McGinn Donna M, Crowley Terrence B, Zackai Elaine, Emanuel Beverly S, Morrow Bernice E, Racedo Silvia E
Abstract excerpt
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 now evaluated cardiac phenotypes in 235 subjects with 22q11.2DupS including 102 subjects we collected and 133...
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