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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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 em: MDPI 2020
Assuntos:
Case Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados