| Lemli, Luc | <person> 20th century U.S. Paediatrician. See: Smith-Lemli-Opitz syndrome. (05 Mar 2000) |
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| smith-lemli-opitz syndrome | <syndrome> Autosomal recessive disorder characterised by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. (12 Dec 1998) |
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