Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Retinoblastoma is the most common eye cancer in children. Numerous families have been described displaying reduced penetrance and expressivity. An extensive molecular characterization of seven families led us to characterize the two main mechanisms impacting on phenotypic expression, as follows: (i)...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Imperatore, Valentina, Pinto, Anna Maria, Gelli, Elisa, Trevisson, Eva, Morbidoni, Valeria, Frullanti, Elisa, Hadjistilianou, Theodora, De Francesco, Sonia, Toti, Paolo, Gusson, Elena, Roversi, Gaia, Accogli, Andrea, Capra, Valeria, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6018773/
https://ncbi.nlm.nih.gov/pubmed/29662154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0054-6
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