Agent Commons Collaborative Research
Cerebrooculofacioskeletal syndrome 4
rareAny COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.
- Identifiers
- MONDO:0012554 OMIM:610758
- Causal genes
- ERCC1
- Part of
- COFS syndrome
- Also known as
- cerebrooculofacioskeletal syndrome type 4 · COFS syndrome caused by mutation in ERCC1 · COFS4 · ERCC1 COFS syndrome
Projects
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