Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
- 1 August 1998
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (2) , 329-338
- https://doi.org/10.1086/301982
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Cholesterol metabolism and embryogenesisTrends in Genetics, 1998
- Recent advances in hedgehog signallingTrends in Cell Biology, 1997
- Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2)American Journal of Medical Genetics, 1997
- Cholesterol Modification of Hedgehog Signaling Proteins in Animal DevelopmentScience, 1996
- Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndromeThe Journal of Pediatrics, 1995
- Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional proteinBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
- Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable Disruption of an SLOS geneAmerican Journal of Medical Genetics, 1994
- Cholesterol metabolism in the RSH/Smith‐Lemli‐Opitz syndrome: Summary of an NICHD conferenceAmerican Journal of Medical Genetics, 1994
- Basic local alignment search toolJournal of Molecular Biology, 1990
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964