- Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Kwok, C., Weller, P.A., Guioli, S., Foster, J.W., Mansour, S., Zuffardi, O., Punnett, H.H., Dominguez-Steglich, M.A., Brook, J.D., Young, I.D. Am. J. Hum. Genet. (1995)