Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report
Abstract Background Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially tendons, lenses, and the central and per...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-025-05481-y |
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