Associated Papers
Trigeminal Neuralgia in a 12-Month-Old Boy With Dandy-Walker Malformation and Homozygous Pathogenic TOPORS Variant.
Lob KN et al.
American Journal of Medical Genetics. Part A, 2025
TOPORS as a novel causal gene for Joubert syndrome.
Strong A et al.
American Journal of Medical Genetics. Part A, 2023
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
Strong A et al.
American Journal of Medical Genetics. Part A, 2021
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