Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome
- 13 January 1994
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 330 (2) , 107-113
- https://doi.org/10.1056/nejm199401133300205
Abstract
The Smith-Lemli-Opitz syndrome (frequency, 1:20,000 to 1:40,000) is defined by a constellation of severe birth defects affecting most organ systems. Abnormalities frequently include profound mental retardation, severe failure to thrive, and a high infant-mortality rate. The syndrome has heretofore been diagnosed only from its clinical presentation.Keywords
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