Associated Papers
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR et al.
Bmc Medical Genomics, 2024
Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7.
Wu ZF et al.
American Journal of Medical Genetics. Part A, 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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