Article
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
Journal of human genetics - 1 Jan 2020
Rodríguez-Martín Carlos, Robledo Cristina, Gómez-Mariano Gema, Monzón Sara, Sastre Ana, Abelairas Jose, Sábado Constantino, Martín-Begué Nieves, Ferreres Joan Carles, Fernández-Teijeiro Ana, González-Campora Ricardo, Rios-Moreno María José, Zaballos Ángel, Cuesta Isabel, Martínez-Delgado Beatriz, Posada Manuel, Alonso Javier
Abstract excerpt
Somatic mutational mosaicism is a common feature of monogenic genetic disorders, particularly in diseases such as retinoblastoma, with high rates of de novo mutations. The detection and quantification of mosaicism is particularly relevant in these diseases, since it has important implications for genetic counseling, patient management, and probably also on disease onset and progression. In order to assess the...
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