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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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Detalhes bibliográficos
Main Authors: Rapini, Novella, Lidano, Roberta, Pietrosanti, Silvia, Vitiello, Giuseppina, Grimaldi, Chiara, Postorivo, Diana, Nardone, Anna Maria, Del Bufalo, Francesca, Brancati, Francesco, Manca Bitti, Maria Luisa
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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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