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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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| Опубликовано в: : | Genes (Basel) |
|---|---|
| Главные авторы: | , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
MDPI
2020
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| Предметы: | |
| 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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