A patient diagnosed with Galloway–Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs
Author:
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
https://link.springer.com/content/pdf/10.1007/s10633-021-09820-4.pdf
Reference23 articles.
1. Galloway WH, Mowat AP (1968) Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet 5(4):319–321
2. Delague V, Bareil C, Bouvagnet P et al (2002) A new autosomal recessive nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family. Neurogenetics 4(1):23–27
3. Ben-Omran T, Fahiminiya S, Sorfazlian N et al (2015) Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. J Med Genet 52(6):381–390
4. Jinks RN, Puffenberger EG, Baple E et al (2015) Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138(Pt 8):2173–2190
5. Vodopiutz J, Seidl R, Prayer D et al (2015) WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Hum Mutat 36(11):1021–1028
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1. Prdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis;Frontiers in Cell and Developmental Biology;2024-02-20
2. Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients;Frontiers in Molecular Neuroscience;2023-02-16
3. Electronegative ERG or pseudo-negative ERG?;Documenta Ophthalmologica;2022-09-23
4. Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis;Gene Expression Patterns;2021-12
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