Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

Eur J Hum Genet. 2013 Aug;21(8). doi: 10.1038/ejhg.2012.255. Epub 2013 Jan 16.

Authors

Martina Witsch-Baumgartner¹, Hilary Sawyer, Dorothea Haas

Affiliation

¹ Department of Medical Genetics, Molecular and Clinical Pharmacology, Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. witsch-baumgartner@i-med.ac.at

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Genetic Testing
Humans
Mutation*
Oxidoreductases Acting on CH-CH Group Donors / genetics*
Prognosis
Sensitivity and Specificity
Smith-Lemli-Opitz Syndrome / diagnosis*
Smith-Lemli-Opitz Syndrome / genetics*

Substances

Oxidoreductases Acting on CH-CH Group Donors
7-dehydrocholesterol reductase