Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

BackgroundGalloway-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...

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Main Authors: Takuya Hiraide (Author), Taiju Hayashi (Author), Yusuke Ito (Author), Rei Urushibata (Author), Hiroshi Uchida (Author), Ryoichi Kitagata (Author), Hidetoshi Ishigaki (Author), Tsutomu Ogata (Author), Hirotomo Saitsu (Author), Tokiko Fukuda (Author)
Format: Book
Published: Frontiers Media S.A., 2024-04-01T00:00:00Z.
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