The American Journal of Human Genetics
Volume 63, Issue 1, July 1998, Pages 55-62
Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome
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Smith-Lemli-Opitz syndrome
Sterol Δ7-reductase
Cholesterol biosynthesis
Chromosome 11q12-13
Mutation analysis
Dysmorphology
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Copyright © 1998 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.