Authors: Loffler, J Trojovsky, A Casati, B Kroisel, PM Utermann, G

Citation: J. Loffler et al., Homozygosity for the W151X stop mutation in the Delta 7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis, AM J MED G, 95(2), 2000, pp. 174-177