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Prenatal diagnosis of Smith-Lemli-Opitz syndrome
J M McGaughran1, P T Clayton, K A Mills
1Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
American Journal of Medical Genetics
|April 10, 1995
Abstract:
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.