13q Deletion Syndrome Involving RB1: 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 RB1 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 by RB, development...

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Detalles Bibliográficos
Autores principales: Privitera, Flavia, Calonaci, Arianna, Doddato, Gabriella, Papa, Filomena Tiziana, Baldassarri, Margherita, Pinto, Anna Maria, Mari, Francesca, Longo, Ilaria, Caini, Mauro, Galimberti, Daniela, Hadjistilianou, Theodora, De Francesco, Sonia, Renieri, Alessandra, Ariani, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471443/
https://www.ncbi.nlm.nih.gov/pubmed/34573300
http://dx.doi.org/10.3390/genes12091318

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471443/
https://www.ncbi.nlm.nih.gov/pubmed/34573300
http://dx.doi.org/10.3390/genes12091318

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