Associated Papers
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Rawlins LE et al.
Annals of Neurology, 2026
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Liaqat K et al.
Clinical Genetics, 2023
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