Associated Papers
Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7.
Yang A et al.
Genes & Diseases, 2025
Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1.
Wei T et al.
Heliyon, 2024
Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.
Jo YH et al.
Annals of Clinical and Laboratory Science, 2023
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