Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome

Eur J Hum Genet. 2015 Mar;23(3):277-8. doi: 10.1038/ejhg.2014.87. Epub 2014 May 14.

Authors

Martina Witsch-Baumgartner¹, Barbara Lanthaler¹

Affiliation

¹ Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Innsbruck, Austria.

No abstract available

Publication types

Letter

MeSH terms

Humans
Mutation
Oxidoreductases Acting on CH-CH Group Donors / genetics
Phenotype
Smith-Lemli-Opitz Syndrome / diagnosis*
Smith-Lemli-Opitz Syndrome / genetics*
Smith-Lemli-Opitz Syndrome / therapy

Substances

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