Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

por Goldenberg-Cohen, Nitza, Banin, Eyal, Zalzstein, Yael, Cohen, Ben, Rotenstreich, Ygal, Rizel, Leah, Basel-Vanagaite, Lina, Ben-Yosef, Tamar
Publicado 2013