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Article

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.

American journal of medical genetics - 6 Aug 1998

Anderson A J, Stephan M J, Walker W O, Kelley R I

Abstract excerpt

The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies. Recently, biochemical evidence of an inborn error of cholesterol biosynthesis at the level of 7-dehydrocholesterol (7DHC) reductase was reported in children and adults with...

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Identifiers

PMID: 9714006
DOI: 10.1002/(sici)1096-8628(19980806)78:5<413::aid-ajmg4>3.0.co;2-m

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Recent insights into the Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

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