Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>A (E191K) DHCR24 mutation. Comparison of the...

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Detalles Bibliográficos
Autores principales: Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E, Boerkoel, Cornelius F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076431/
https://www.ncbi.nlm.nih.gov/pubmed/24961299
http://dx.doi.org/10.1186/1750-1172-9-94

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076431/
https://www.ncbi.nlm.nih.gov/pubmed/24961299
http://dx.doi.org/10.1186/1750-1172-9-94

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