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Discordant Clinical Phenotype and Sterol Biochemistry in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase gene (DHCR7). During de novo cholesterol biosynthesis, DHCR7 catalyzes the conversion of 7-dehydrocholesterol (7DHC) to cholesterol. A clinical diagnosis of SLOS is co...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3027211/ https://ncbi.nlm.nih.gov/pubmed/20635399 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33540 |
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