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Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery. Different mechanisms of disease have been demonstrated to be associated w...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Calcagni, Giulio, Digilio, Maria Cristina, Marino, Bruno, Tartaglia, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6610955/
https://ncbi.nlm.nih.gov/pubmed/31277675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1151-0
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