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De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and i...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3896849/ https://ncbi.nlm.nih.gov/pubmed/24433316 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-40-5 |
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