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Results: 1-2 |
Results: 2
Smith-Lemli-Opitz syndrome: A multiple malformation/mental retardation syndrome caused by defective cholesterol synthesis
Authors: Ginat, S Maslen, CL Conner, WE Porter, FD Steiner, RD
Citation: S. Ginat et al., Smith-Lemli-Opitz syndrome: A multiple malformation/mental retardation syndrome caused by defective cholesterol synthesis, ENDOCRINOLO, 10(5), 2000, pp. 300-313
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
Authors: Linck, LM Hayflick, SJ Lin, DS Battaile, KP Ginat, S Burlingame, T Gibson, KM Honda, M Honda, A Salen, G Tint, GS Connor, WE Steiner, RD
Citation: Lm. Linck et al., Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi, PRENAT DIAG, 20(3), 2000, pp. 238-240
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