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Article

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

13 Jan 1994

Abstract excerpt

BACKGROUND: 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. METHODS: Using capillary-column gas...

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Identifiers

PMID: 8259166
DOI: 10.1056/nejm199401133300205

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