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

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

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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...

Topics

Cholesterol
Cholesterol, Dietary
Dehydrocholesterols
Diagnosis, Differential
Female
Genes, Recessive
Growth Disorders
Humans
Infant
Lymphocytes
Male
Nuclear Family
Phenotype
Smith-Lemli-Opitz Syndrome
Sterols

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