Associated Papers
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Rawlins LE et al.
Annals of Neurology, 2026
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.
Horn S et al.
Frontiers in Neurology, 2022
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Pacio Miguez M et al.
American Journal of Medical Genetics. Part A, 2020
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.
Lucena PH et al.
American Journal of Medical Genetics. Part A, 2020
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