- Two Siblings with Cerebrotendinous Xanthomatosis
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Park JY, Shin DH, Choi JS, Park MY
- KMID: 2388398
- Korean J Dermatol.
- 2013 Jun;51(6):450-454.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report two CTX siblings that were presented with typical manifestations such as... -
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- A Case of Cerebrotendinous Xanthomatosis
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Jung SJ, Kim HT
- KMID: 1852243
- J Korean Neurol Assoc.
- 2000 Jan;18(1):94-97.
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid-storage disease with abnormal deposition of cholesterol and cholestanol in multiple tissues. The disease is caused by mutations in the sterol 27-hydroxylase... -
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