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Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DL: Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 1999, in press. These authors present the discovery of the inborn error of sterol metabolism in this form of skeletal dysplasia.
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Bradley LA, Palomaki GE, Knight GJ, Haddow JE, Opitz JM, Irons M, et al.: Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet 1999, 82:355-358. These authors address the important issue of prenatal screening for RSH cases, especially in those that test screen-positive for 18-trisomy syndrome.
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Moebius FF, Fitzky BU, Lee JN, Paik Y-K, Glossmann H: Molecular cloning and expression of the human Δ7-sterol reductase. Proc Natl Acad Sci U S A 1998, 95:1899-1902. This is the first publication on the genetic defect in RSH by the Innsbruck team.
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