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Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):242-9. doi: 10.1002/ajmg.c.31341. Epub 2012 Oct 11.

The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.

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1
American Journal of Medical Genetics, University of Utah, 419 Wakara Way, Ste 213, Salt Lake City, UT 84108, USA. john.opitz@hsc.utah.edu

Abstract

Thirty years after its clinical delineation in humans and its teratologic simulation in rats, a Garrodian error of metabolism was discovered in the autosomal recessive RSH/SLO syndrome, namely defective conversion of 7-dehydrocholesterol to cholesterol due to the mutant 7-dehydrocholesterol reductase. This opened the door to the study of several other defects of sterol biosynthesis in humans and the creation of animal "models." The gross discrepancy between expected and observed birth prevalence suggests high embryolethality. The discovery of the role of cholesterol in the synthesis of the morphogen sonic hedgehog has greatly advanced our understanding of mammalian development.

PMID:
23059855
DOI:
10.1002/ajmg.c.31341
[Indexed for MEDLINE]
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