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

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Medicine & Life Sciences