Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7-dehydrocholesterol (7-DHC) levels. Our aim was to identify a...

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Bibliographic Details
Main Authors: Fernanda B. Scalco, Paulo A. Otto, Iguatemy L. Brunetti, Vania M. Cruzes, Danilo Moretti-Ferreira
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2006-01-01
Series:Genetics and Molecular Biology
Subjects:
Smith-Lemli-Opitz syndrome
cholesterol metabolism
7-dehydrocholesterol
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300003

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