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Article

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome

19 Feb 1999

Abstract excerpt

The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the level of 3beta-hydroxysteroid-delta7-reductase, resulting in a decreased level of cholesterol and an increased level of...

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Identifiers

PMID: 10069707
DOI: 10.1002/(sici)1096-8628(19990219)82:5<376::aid-ajmg4>3.0.co;2-b

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