Associated Papers
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E et al.
European Journal of Human Genetics : Ejhg, 2023
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
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.
Schulz S et al.
European Journal of Human Genetics : Ejhg, 2018
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ et al.
Nature Genetics, 2017
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