Harvard Catalyst Profiles

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Smith-Lemli-Opitz Syndrome

"Smith-Lemli-Opitz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.


This graph shows the total number of publications written about "Smith-Lemli-Opitz Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Smith-Lemli-Opitz Syndrome" was a major or minor topic of these publication.
Bar chart showing 35 publications over 17 distinct years, with a maximum of 5 publications in 1999
To see the data from this visualization as text, click here.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.