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Article

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2007

Wang Zhaoxia, Yuan Yun, Zhang Wei, Zhang Ying, Feng Liqun

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessively inherited lipid storage disorder with multiple system involvement and has been reported worldwide. Here we report a Chinese family with CTX and present the pathological findings within peripheral nerves and CYP27A1 gene mutation analysis. We also review the published literature to discuss the clinical presentation and classification of...

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Identifiers

PMID: 17319284
DOI: 10.1111/j.1440-1789.2006.00739.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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