Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome


M. Witsch-Baumgartner,B.U. Fitzky,M. Ogorelkova,H.G. Kraft,F.F. Moebius,H. Glossmann,U. Seedorf,G. Gillessen-Kaesbach,G.F. Hoffmann,P. Clayton,R.I. Kelley,G. Utermann


The American Journal of Human Genetics




February 2000

Copyright © 2000, Elsevier

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