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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896849/
https://www.ncbi.nlm.nih.gov/pubmed/24433316
http://dx.doi.org/10.1186/1824-7288-40-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3896849/
https://www.ncbi.nlm.nih.gov/pubmed/24433316
http://dx.doi.org/10.1186/1824-7288-40-5

Ejemplares similares