Associated Papers
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Rawlins LE et al.
Annals of Neurology, 2026
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO et al.
Brain : a Journal of Neurology, 2023
37437211 (PubMed )
Supplement: awad231_supplementary_data.zip › brain-2022-02095-File010.xlsx › OCF_KRD
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
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