Cerebrooculofacioskeletal syndrome 1

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.

Also known as: COFS syndrome, COFS syndrome caused by mutation in ERCC6, COFS1, ERCC6 COFS syndrome, cerebrooculofacioskeletal syndrome 1, cerebrooculofacioskeletal syndrome type 1, Pena-Shokeir syndrome, type 2

3 clinical trials for this condition and its sub-types, 0 tagged with Cerebrooculofacioskeletal syndrome 1 itself.