Associated Papers
TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.
Tortora M et al.
Cerebellum (london, England), 2023
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y et al.
Orphanet Journal of Rare Diseases, 2011
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y et al.
Brain : a Journal of Neurology, 2011
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia.
Bailey KA et al.
Clinical Genetics, 2009
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS et al.
Nature Genetics, 2008
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