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The Smith-Lemli-Opitz syndrome

1 May 2000

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate...

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Identifiers

PMID: 10807690
DOI: 10.1136/jmg.37.5.321

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