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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Библиографические подробности
Опубликовано в: :Genes (Basel)
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI 2020
Предметы:
Case Report
Online-ссылка: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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