22 According to the genotype–phenotype correlation analysis, patients with PDCD10/CCM3 mutation may have a significant trend toward an earlier age at symptoms’ onset (<15 years old), and a higher risk of cerebral hemorrhage during childhood. 23 , 24 Here, we report a novel PDCD10 frameshift mutation, detected in a heterozygous condition in a 44-year-old woman with CCMs.
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A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature.
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