Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations

Autor: Brisset, Sophie, Capri, Yline, Briand-Suleau, Audrey, Tosca, Lucie, Gras, Domitille, Fauret-Amsellem, Anne-Laure, Pineau, Dominique, Saada, Julien, Ortonne, Valérie, Verloes, Alain, Goossens, Michel, Tachdjian, Gérard, Métay, Corinne
Zdroj: In European Journal of Medical Genetics September 2015 58(9):497-501
Databáze: ScienceDirect