Publications

Braun DA et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.Am. J. Med. Genet. 176A: 2460-2465, 2018. PMID: 30079490.

Chen X et al. Speech and language delay in a patient with WDR4 mutations.Europ. J. Med. Genet. 61: 468-472, 2018. PMID: 29597095.

Claudio JO et al. Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13. Genomics 59: 85-89, 1999. PMID: 10395803.

Kim H, Lee H, Lee YM. A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene. Journal of genetic medicine. 2020;17(2):97-101.

Michaud J et al. Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.Genomics 68: 71-79, 2000. PMID: 10950928.

Shaheen R et al. Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.Genome Biol. 16: 210, 2015. Note: Electronic Article. PMID: 26416026.

Trimouille A et al. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene. Clin. Genet. 93: 374-377, 2018. PMID: 28617965.