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Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction
Author(s) -
Nowaczyk Małgorzata J.M.,
Cunniff Christopher
Publication year - 2012
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31344
Subject(s) - smith–lemli–opitz syndrome , cholesterol , cholesterol synthesis , disease , psychiatry , medical genetics , medicine , genetics , biology , enzyme , endocrinology , gene , biochemistry , 7 dehydrocholesterol reductase , reductase
This issue of Seminars of Medical Genetics features a series of articles on Smith–Lemli–Opitz syndrome and other disorders of endogenous cholesterol synthesis. Clinically, many of these disorders have been known for decades, but only in the last 20 years have the molecular genetic and enzymatic defects underlying these disorders been delineated. As a group, disorders of cholesterol synthesis are relatively common and contribute significantly to the burden of human disease. Leading experts in their fields present clinical, behavioral, molecular, and therapeutic aspects of these disorders. © 2012 Wiley Periodicals, Inc.