Article

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

2022-10-03

Abstract excerpt

<h4>Background</h4> Congenital heart disease (CHD) affecting the conotruncal region of the heart, occur in half of patients with 22q11.2 deletion syndrome. This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX1 , mapped to the 22q11.2 region, encoding a T-box transcription factor, is one of the main genes for the etio...

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Literature Corpus work: 33f0db48-00ac-53b0-8be3-9770bf36204f
DOI: 10.1101/2022.09.30.507111

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