Fig. 2From: Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literaturea Pedigree of the family of patient 2 with a likely pathogenic OSGEP variant c.157A > T p.(Ile53Phe) in homozygosity in the proband (arrow) and heterozygosity in her healthy parents. b Conservation of I53 in OSGEP orthologs to C. elegansBack to article page