Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome and microcephaly with central nervous system abnormalities. Pathogenic variants in genes encoding kinase, endopeptidase, and other proteins of small size (KEOPS) complex subunits cause GAMOS. The subunit TPRKB (TP53RK binding protein) has been reported in only two patients with GAMOS with homozygous missense variants. CLINICAL REPORT: Herein, we described a three-year-old male with GAMOS...
2024: Frontiers in Pediatrics