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G. S. Tint, M. Irons, E. R. Elias, A. K. Batta, R. Frieden, T. S. Chen and G. Salen, “Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome,” The New England Journal of Medicine, Vol. 330, No. 2, 1994, pp. 107-113. doi:10.1056/NEJM199401133300205

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