Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis
- 6 November 2000
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- A Gene for Lymphedema-Distichiasis Maps to 16q24.3American Journal of Human Genetics, 1999
- Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase GeneAmerican Journal of Human Genetics, 1998
- Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndromeProceedings of the National Academy of Sciences, 1998
- Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz SyndromeAmerican Journal of Human Genetics, 1998
- Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterolsAmerican Journal of Medical Genetics, 1995