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Cockayne syndrome type 1
rareCockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
- Identifiers
- MONDO:0019569 OMIM:216400Orphanet:90321
- Causal genes
- ERCC8
- Part of
- Cockayne syndrome
- Also known as
- Cockayne syndrome A · Cockayne syndrome caused by mutation in ERCC8 · Cockayne syndrome classic form · Cockayne syndrome classical · Cockayne syndrome type A
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