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Article

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.

The International journal of neuroscience - 1 Oct 2020

Tang Yi, Liu Yanqiu, Li Dan, Guo Dongmei, Xing Yi

Abstract excerpt

PURPOSE OF THE STUDY: Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX. MATERIALS AND METHODS: Clinical data were collected. Gene analysis, MRI, neuropsychological assessments, and the biopsy of right Achilles tendon xanthoma were carried out. RESULTS:...

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PMID: 31914338
DOI: 10.1080/00207454.2020.1713774

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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