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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463848/
https://www.ncbi.nlm.nih.gov/pubmed/32824488
http://dx.doi.org/10.3390/genes11080947

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