A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study

Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If the defect is not large, life expectancy is normal. Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomy...

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Detalles Bibliográficos
Autores principales: Nosan, Gregor, Bertok, Sara, Vesel, Samo, Yntema, Helger G., Paro-Panjan, Darja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893993/
https://www.ncbi.nlm.nih.gov/pubmed/24382853
http://dx.doi.org/10.3325/cmj.2013.54.574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893993/
https://www.ncbi.nlm.nih.gov/pubmed/24382853
http://dx.doi.org/10.3325/cmj.2013.54.574

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