Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial dysmorphisms, mental retardation, and multiple congenital anomalies. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes...

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Bibliographic Details
Main Authors: Waterham, H R, Wijburg, F A, Hennekam, R C, Vreken, P, Poll-The, B T, Dorland, L, Duran, M, Jira, P E, Smeitink, J A, Wevers, R A, Wanders, R J
Format: Artigo
Language:Inglês
Published: 1998
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377322/
https://ncbi.nlm.nih.gov/pubmed/9683613
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