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Vitamin D Levels in Smith-Lemli-Opitz Syndrome
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by mutations in the 7-dehydrocholesterol reductase gene. This inborn error of cholesterol synthesis leads to elevated concentrations of 7-dehydrocholesterol (7-DHC). 7-DHC also serves as the precursor...
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| 出版年: | Am J Med Genet A |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5603413/ https://ncbi.nlm.nih.gov/pubmed/28796426 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38361 |
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