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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Bibliographic Details
Main Authors: Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Pediatrics
Subjects:
TPRKB
Galloway-Mowat syndrome
exome sequencing
KEOPS complex
nephrotic proteinuria
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1360867/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2024.1360867/full

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