HIGHLIGHTS
- who: CASE PRESENTATIONS and colleagues from the (UNIVERSITY) have published the research: SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT, in the Journal: (JOURNAL)
- what: 1.
SUMMARY
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The disease cause remained unknown until 1993 when Irons and al remarked, for SLOS patients, low plasma cholesterol levels and increased serum for sterol precursors such as 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC). The syndrome is caused by deficiency of the enzyme 7-dehydrocholesterol-reductase . . .
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