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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Case Report
Online dostop: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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