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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099205/
https://www.ncbi.nlm.nih.gov/pubmed/24998776
http://dx.doi.org/10.1186/1471-2350-15-78

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