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

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 genes, OSGEP...

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Detalles Bibliográficos
Autores principales: Domingo-Gallego, Andrea, Furlano, Mónica, Pybus, Marc, Barraca, Daniel, Martínez, Ana Belén, Mora Muñoz, Emiliano, Torra, Roser, Ars, Elisabet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458604/
https://www.ncbi.nlm.nih.gov/pubmed/30975089
http://dx.doi.org/10.1186/s12882-019-1317-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458604/
https://www.ncbi.nlm.nih.gov/pubmed/30975089
http://dx.doi.org/10.1186/s12882-019-1317-y

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