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Adrenal function in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome due to mutations of the 7-dehydrocholesterol reductase gene (DHCR7), which leads to a deficiency of cholesterol synthesis and an accumulation of 7-dehydrocholesterol and related metabolites. The SLOS clinical spectrum ranges from...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3488380/ https://ncbi.nlm.nih.gov/pubmed/21990131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34271 |
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