Loading...
Keywords
Last Name
Institution

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.

expand / collapse MeSH information
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.


expand / collapse publications
This graph shows the total number of publications written about "Smith-Lemli-Opitz Syndrome" by people in this website by year, and whether "Smith-Lemli-Opitz Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
_