Associated Papers
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
Nerakh G et al.
American Journal of Medical Genetics. Part A, 2022
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
Knapp KM et al.
Journal of Medical Genetics, 2020
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ et al.
Nature Genetics, 2017
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