Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

BACKGROUND: Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1 as a critical gene in the pathogenesis of th...

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Detalles Bibliográficos
Autores principales: Xu, Yue-Juan, Wang, Jian, Xu, Rang, Zhao, Peng-Jun, Wang, Xi-Ke, Sun, Heng-Juan, Bao, Li-Ming, Shen, Jie, Fu, Qi-Hua, Li, Fen, Sun, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3259064/
https://www.ncbi.nlm.nih.gov/pubmed/22185286
http://dx.doi.org/10.1186/1471-2350-12-169

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