Browsing Faculty Publications (CoM) by Subject "GAMOS"
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Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
(2022)Introduction: Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroidresistant nephrotic syndrome, ...