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LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene

LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. However, hypertrophic cardiomyopathy, the most frequent cause of sudden cardiac death in young peo...

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Detalhes bibliográficos
Main Authors: Martínez-Quintana, E., Rodríguez-González, F.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3362168/
https://ncbi.nlm.nih.gov/pubmed/22822385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335995
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