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RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology
INTRODUCTION: Noonan syndrome (NS) is a dominant autosomal disease, caused by mutations in genes involved in cell differentiation, growth and senescence, one of them being RAF1 mutation. Congenital heart disease may influence the prognosis of the disease. CASE PRESENTATION: We report a case of an 18...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sciendo
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097645/ https://www.ncbi.nlm.nih.gov/pubmed/35950157 http://dx.doi.org/10.2478/jccm-2022-0007 |