13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retard...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo and Palma Finelli Tags: Case Report Source Type: research