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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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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
S. Karger AG
2012
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| Assuntos: | |
| Acceso en liña: | 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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