Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome. - Witsch-Baumgartner, M.; Fitzky, B.U.; Ogorelkova, M.; Kraft, H.G.; Moebius, F.F.; Glossmann, H.; Seedorf, U.; Gillessen-Kaesbach, G.; Hoffmann, G.F.; Clayton, P.; Kelley, R.I.; Utermann, G. (American Journal of Human Genetics, 2000)