Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction

Małgorzata J M Nowaczyk, Christopher M Cunniff

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)239-241
Number of pages3
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume160 C
Issue number4
DOIs
StatePublished - Nov 15 2012

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Smith-Lemli-Opitz Syndrome
Cholesterol
Medical Genetics
Molecular Biology
Therapeutics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis : An introduction. / Nowaczyk, Małgorzata J M; Cunniff, Christopher M.

In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 160 C, No. 4, 15.11.2012, p. 239-241.

Research output: Contribution to journalArticle

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