Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy

In this report, an atypical case of Noonan syndrome (NS) associated with sarcomeric hypertrophic cardiomyopathy (HCM) in a 33-year-old patient was described. Genetic testing revealed two different disease-causing mutations: a mutation in the PTPN11 gene, explaining NS, and a mutation in the MYBPC3 g...

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Detalles Bibliográficos
Publicado en:Genes (Basel)
Main Authors: Caiazza, Martina, Rubino, Marta, Monda, Emanuele, Passariello, Annalisa, Fusco, Adelaide, Cirillo, Annapaola, Esposito, Augusto, Pierno, Anna, De Fazio, Federica, Pacileo, Roberta, Evangelista, Eloisa, Pacileo, Giuseppe, Russo, Maria Giovanna, Limongelli, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2020
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7463848/
https://ncbi.nlm.nih.gov/pubmed/32824488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11080947
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