Associated Papers
Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81.
Le Calvez B et al.
American Journal of Hematology, 2024
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
Su J et al.
Molecular Genetics & Genomic Medicine, 2021
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Cavallin M et al.
Brain : a Journal of Neurology, 2017
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