Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion

BACKGROUND: TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart defects (CTDs) patients. The aim of the study was to screen the mutation of T...

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Detalhes bibliográficos
Main Authors: Xu, Yue-Juan, Chen, Sun, Zhang, Jian, Fang, Shao-Hai, Guo, Qian-Qian, Wang, Jian, Fu, Qi-Hua, Li, Fen, Xu, Rang, Sun, Kun
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4099205/
https://ncbi.nlm.nih.gov/pubmed/24998776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-78
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