COFS syndromeCOFS syndrome caused by mutation in ERCC6COFS1ERCC6 COFS syndromecerebrooculofacioskeletal syndrome 1cerebrooculofacioskeletal syndrome type 1Pena-Shokeir syndrome, type 2
Definition
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
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