Desmosterolosis—Phenotypic and Molecular Characterization of a Third Case and Review of the Literature

Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in DHCR24, the gene encoding the enzyme 24-dehydrocholesterol reductase (DHCR24). To date, desmosterolosis has been described in only two patients. Here we report on a third patient with desmosterolosis who presente...

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Gepubliceerd in:Am J Med Genet A
Hoofdauteurs: Schaaf, Christian P., Koster, Janet, Katsonis, Panagiotis, Kratz, Lisa, Shchelochkov, Oleg A., Scaglia, Fernando, Kelley, Richard I., Lichtarge, Olivier, Waterham, Hans R., Shinawi, Marwan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2011
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4995031/
https://ncbi.nlm.nih.gov/pubmed/21671375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34040
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