Associated Papers
Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.
Wei J et al.
Bmc Pediatrics, 2025
Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.
Chen Y et al.
Bmc Nephrology, 2023
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › -5_position
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA et al.
Nature Genetics, 2017
Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.
Huang L et al.
Case Reports in Nephrology and Dialysis, 0
Select a paper to view details