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

V. Imperatore, A.M. Pinto, E. Gelli, E. Trevisson, V. Morbidoni, E. Frullanti, T. Hadjistilianou, S. De Francesco, P. Toti, E. Gusson, G. Roversi, A. Accogli, V. Capra, M.A. Mencarelli, A. Renieri, F. Ariani

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Imperatore, V., Pinto, A. M., Gelli, E., Trevisson, E., Morbidoni, V., Frullanti, E., Hadjistilianou, T., De Francesco, S., Toti, P., Gusson, E., Roversi, G., Accogli, A., Capra, V., Mencarelli, M. A., Renieri, A., & Ariani, F. (2018). Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma. European Journal of Human Genetics, 26(7), 1026-1037. https://doi.org/10.1038/s41431-017-0054-6