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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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Библиографические подробности
Опубликовано в: :Mol Cytogenet
Главные авторы: Bestetti, Ilaria, Sironi, Alessandra, Catusi, Ilaria, Mariani, Milena, Giardino, Daniela, Manoukian, Siranoush, Milani, Donatella, Larizza, Lidia, Castronovo, Chiara, Finelli, Palma
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Online-ссылка: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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