15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia

Autor: Huynh, Minh-Tuan, Lambert, Anne-Sophie, Tosca, Lucie, Petit, François, Philippe, Christophe, Parisot, Frédéric, Benoît, Virginie, Linglart, Agnès, Brisset, Sophie, Tran, Cong Toai, Tachdjian, Gérard, Receveur, Aline
Zdroj: In European Journal of Medical Genetics August 2018 61(8):459-464
Databáze: ScienceDirect
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