13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

BACKGROUND: 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 retardation, craniofacial dysmorphisms, congenital malformations, and increased risk...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Bestetti, Ilaria, Sironi, Alessandra, Catusi, Ilaria, Mariani, Milena, Giardino, Daniela, Manoukian, Siranoush, Milani, Donatella, Larizza, Lidia, Castronovo, Chiara, Finelli, Palma
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6148795/
https://ncbi.nlm.nih.gov/pubmed/30250511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0401-5
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