Atrioventricular canal defect in patients with RASopathies

Congenital heart defects affect 60-85% of patients with RASopathies. We analysed the clinical and molecular characteristics of atrioventricular canal defect in patients with mutations affecting genes coding for proteins with role in the RAS/MAPK pathway. Between 2002 and 2011, 101 patients with card...

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Hlavní autoři: Digilio, Maria Cristina, Romana Lepri, Francesca, Lisa Dentici, Maria, Henderson, Alex, Baban, Anwar, Cristina Roberti, Maria, Capolino, Rossella, Versacci, Paolo, Surace, Cecilia, Angioni, Adriano, Tartaglia, Marco, Marino, Bruno, Dallapiccola, Bruno
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548264/
https://ncbi.nlm.nih.gov/pubmed/22781091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.145
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