Associated Papers
Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.
Huang L et al.
Cell Communication and Signaling : Ccs, 2025
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities.
Nogueira E et al.
Clinical Genetics, 2025
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
Tilley FC et al.
Scientific Reports, 2021
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J et al.
Human Mutation, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN et al.
Brain : a Journal of Neurology, 2015
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Colin E et al.
American Journal of Human Genetics, 2014
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