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

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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Bibliographic Details
Main Authors: Martina Caiazza, Marta Rubino, Emanuele Monda, Annalisa Passariello, Adelaide Fusco, Annapaola Cirillo, Augusto Esposito, Anna Pierno, Federica De Fazio, Roberta Pacileo, Eloisa Evangelista, Giuseppe Pacileo, Maria Giovanna Russo, Giuseppe Limongelli
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
Noonan syndrome
hypertrophic cardiomyopathy
double mutations
Online Access:https://www.mdpi.com/2073-4425/11/8/947

Internet

https://www.mdpi.com/2073-4425/11/8/947

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