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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome :
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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome : case report and review of the literature
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Domingo, Andrea
(Institut d'Investigació Biomèdica Sant Pau)
;
Furlano, Monica
(Institut d'Investigació Biomèdica Sant Pau) ;
Pybus, Marc
(Institut d'Investigació Biomèdica Sant Pau) ;
Barraca, Daniel
(Hospital General Universitario Gregorio Marañón) ;
Martínez, Ana Belén
(Hospital General Universitario Gregorio Marañón) ;
Mora Muñoz, Emiliano
(Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Torra Balcells, Roser
(Institut d'Investigació Biomèdica Sant Pau) ;
Ars, Elisabet
(Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
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