Cerebrooculofacioskeletal syndrome 4

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.

Also known as: COFS syndrome caused by mutation in ERCC1, COFS4, ERCC1 COFS syndrome, cerebrooculofacioskeletal syndrome 4, cerebrooculofacioskeletal syndrome type 4

35 clinical trials for this condition and its sub-types.