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Cockayne syndrome type 2
rareCockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
- Identifiers
- MONDO:0019570 OMIM:133540Orphanet:90322
- Causal genes
- ERCC6
- Part of
- Cockayne syndrome
- Also known as
- Cockayne syndrome B · Cockayne syndrome type B · Cockayne syndrome type II · Cockayne syndrome, type B · CSB
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