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Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing

BACKGROUND: Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence demonstrates that dysfunctional TBX2 and TBX3 result in outflow tract malforma...

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Dettagli Bibliografici
Pubblicato in:Hum Genomics
Autori principali: Xie, Huilin, Zhang, Erge, Hong, Nanchao, Fu, Qihua, Li, Fen, Chen, Sun, Yu, Yu, Sun, Kun
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6142335/
https://ncbi.nlm.nih.gov/pubmed/30223900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-018-0176-0
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