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Demonstrates accurate prenatal diagnosis of Smith-Lemli-Opitz syndrome using cholesterol synthesis defects, indicating potential utility for carrier detection.
An abnormality in cholesterol synthesis was described recently in the Smith-Lemli-Opitz (SLO) syndrome. Here we describe how the application of this finding has enabled an accurate prenatal diagnosis. We also discuss the possible use of this test in detecting heterozygotes.
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McGaughran et al. (1995) studied this question.
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