A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report

por Lobbes, Hervé, Reynaud, Quitterie, Mainbourg, Sabine, Savy-Stortz, Claire, Ropert, Martine, Bardou-Jacquet, Edouard, Durupt, Stéphane
Publicado 2022