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Desmosterolosis presenting with multiple congenital anomalies
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development...
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| Publicat a: | Eur J Med Genet |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5963269/ https://ncbi.nlm.nih.gov/pubmed/29175559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2017.11.009 |
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