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  1. Article

    Open Access

    Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

    Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. WDR73 pathogenic variants were described as the first ...

    Andrea Domingo-Gallego, Mónica Furlano, Marc Pybus, Daniel Barraca… in BMC Nephrology (2019)

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