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Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

1 Dec 2018

Abstract excerpt

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be a genetically heterogenous group of disorders. Recently, it has been reported that mutations in KEOPS-encoding genes, including the...

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PMID: 30558655
DOI: 10.1186/s13023-018-0961-9

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