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A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations
BACKGROUND: PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. CASE SUMMARY...
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| Publicado no: | Case Rep Pediatr |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6458885/ https://ncbi.nlm.nih.gov/pubmed/31049239 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/7640140 |
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