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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E. Domingo-Gallego A, et al. BMC Nephrol. 2019 Apr 11;20(1):126. doi: 10.1186/s12882-019-1317-y. BMC Nephrol. 2019. PMID: 30975089 Free PMC article. Review.
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. ...
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrot …
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M. Al-Rakan MA, et al. BMC Ophthalmol. 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. BMC Ophthalmol. 2018. PMID: 29929488 Free PMC article. Review.
BACKGROUND: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development …
BACKGROUND: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and character …
The structural and functional workings of KEOPS.
Beenstock J, Sicheri F. Beenstock J, et al. Nucleic Acids Res. 2021 Nov 8;49(19):10818-10834. doi: 10.1093/nar/gkab865. Nucleic Acids Res. 2021. PMID: 34614169 Free PMC article. Review.
KEOPS (Kinase, Endopeptidase and Other Proteins of Small size) is a five-subunit protein complex that is highly conserved in eukaryotes and archaea and is essential for the fitness of cells and for animal development. In humans, mutations in KEOPS genes underlie Galloway- …
KEOPS (Kinase, Endopeptidase and Other Proteins of Small size) is a five-subunit protein complex that is highly conserved in eukaryotes and …
Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.
Cooperstone BG, Friedman A, Kaplan BS. Cooperstone BG, et al. Am J Med Genet. 1993 Aug 15;47(2):250-4. doi: 10.1002/ajmg.1320470221. Am J Med Genet. 1993. PMID: 8213914 Review.
The prognosis is extremely poor; every patient but one has died before age 5 1/2 years. Antenatal diagnosis may be possible....
The prognosis is extremely poor; every patient but one has died before age 5 1/2 years. Antenatal diagnosis may be possible....