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

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

Abstract Background 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 genetic cause of GAMOS and, very recently, four novel causative gene...

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Bibliographic Details
Main Authors: Andrea Domingo-Gallego, Mónica Furlano, Marc Pybus, Daniel Barraca, Ana Belén Martínez, Emiliano Mora Muñoz, Roser Torra, Elisabet Ars
Format: Article
Language:English
Published: BMC 2019-04-01
Series:BMC Nephrology
Subjects:
Galloway-Mowat syndrome
Nephrotic syndrome
OSGEP
KEOPS complex
Genetic testing
Case report
Online Access:http://link.springer.com/article/10.1186/s12882-019-1317-y

Internet

http://link.springer.com/article/10.1186/s12882-019-1317-y

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