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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Detalles Bibliográficos
Autores principales: Bestetti, Ilaria, Sironi, Alessandra, Catusi, Ilaria, Mariani, Milena, Giardino, Daniela, Manoukian, Siranoush, Milani, Donatella, Larizza, Lidia, Castronovo, Chiara, Finelli, Palma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148795/
https://www.ncbi.nlm.nih.gov/pubmed/30250511
http://dx.doi.org/10.1186/s13039-018-0401-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148795/
https://www.ncbi.nlm.nih.gov/pubmed/30250511
http://dx.doi.org/10.1186/s13039-018-0401-5

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