An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis
<b>Background and Clinical Significance:</b> Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the <i>CYP27A1</i> gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents with a...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-05-01
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| Series: | Reports |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2571-841X/8/2/77 |
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