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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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| Główni autorzy: | , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
1998
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1377322/ https://ncbi.nlm.nih.gov/pubmed/9683613 |
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