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Article

R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.

Journal of cardiovascular medicine (Hagerstown, Md.) - 1 Aug 2013

Beffagna Giorgia, Cecchetto Antonella, Dal Bianco Lucia, Lorenzon Alessandra, Angelini Annalisa, Padalino Massimo, Vida Vladimiro, Bhattacharya Shoumo, Stellin Giovanni, Rampazzo Alessandra, Daliento Luciano

Abstract excerpt

AIMS: Heterozygous mutations in the transcription factor Nkx2.5 indicate a genetic cause for congenital heart diseases (CHDs) in human beings. The present study aimed to assess the prevalence of NKX2.5 mutations in Italian patients with sporadic non-syndromic and syndromic CHD, as well as to appraise any genotype-phenotype correlations. METHODS: One hundred Italian patients affected with CHD (90 had sporadic...

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PMID: 22964646
DOI: 10.2459/JCM.0b013e328356a326

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