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Recent insights into the Smith–Lemli–Opitz syndrome
The Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation disorder caused by an inborn error of post-squalene cholesterol biosynthesis. Deficient cholesterol synthesis in SLOS is caused by inherited mutations of 3β-hydroxysterol-Δ7 reductase gene...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2005
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1350989/ https://ncbi.nlm.nih.gov/pubmed/16207203 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2005.00515.x |
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