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Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation
Cerebrotendinous xanthomatosis (CTX), also known as CTX, is an extremely rare bile acid metabolic disorder caused by mutations in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene. This genetic disease is inherited in an autosomal recessive manner, and it affects the enzyme sterol 27...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821311/ https://www.ncbi.nlm.nih.gov/pubmed/36628393 http://dx.doi.org/10.7759/cureus.33378 |