- A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Raas-Rothschild, A., Wanders, R.J., Mooijer, P.A., Gootjes, J., Waterham, H.R., Gutman, A., Suzuki, Y., Shimozawa, N., Kondo, N., Eshel, G., Espeel, M., Roels, F., Korman, S.H. Am. J. Hum. Genet. (2002)