Associated Papers
Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.
Škarica M et al.
Genes, 2025
Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome.
Li Q et al.
Journal of Personalized Medicine, 2021
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
Braunisch MC et al.
Clinical Genetics, 2018
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