Associated Papers
Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.
Chen J et al.
Frontiers in Genetics, 2025
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Liu MW et al.
Molecular Biology Reports, 2024
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.
Zhang D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome.
Taghdiri M et al.
Frontiers in Pediatrics, 2017
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