Article

AAV gene therapy for Cockayne syndrome

2025-06-09

Abstract excerpt

<h4>ABSTRACT</h4> Cockayne Syndrome (CS) is an autosomal recessive, progressive developmental and neurodegenerative disease. Approximately 30% of cases are caused by mutations in the ERCC8/CSA gene. Patients with CS present with cutaneous photosensitivity, growth failure, shorter life span and a progressive degeneration of the central nervous system. Loss of function mutations in CSA result in deficiencies in tr...

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Literature Corpus work: 89ad8320-6e84-524c-bda1-6072fba71ea1
DOI: 10.1101/2025.06.06.658349

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