13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor Delay

13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor Delay

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the <i>RB1</i> gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized...

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Bibliographic Details
Main Authors: Flavia Privitera, Arianna Calonaci, Gabriella Doddato, Filomena Tiziana Papa, Margherita Baldassarri, Anna Maria Pinto, Francesca Mari, Ilaria Longo, Mauro Caini, Daniela Galimberti, Theodora Hadjistilianou, Sonia De Francesco, Alessandra Renieri, Francesca Ariani
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
13q deletion syndrome
retinoblastoma
array-CGH
intellectual disability
NBEA
Online Access:https://www.mdpi.com/2073-4425/12/9/1318

Internet

https://www.mdpi.com/2073-4425/12/9/1318

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