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Article

Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

Clinical genetics - 1 Mar 2002

Lamon-Fava S, Schaefer E J, Garuti R, Salen G, Calandra S

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare recessive autosomal disease caused by mutations of the sterol 27-hydroxylase gene. Clinically, CTX is characterized by tendon xanthomas, cataracts and progressive neurological deficits. Because of the disruption of the 27-hydroxylase activity, CTX patients have elevated plasma levels of cholestanol, a by-product of abnormal bile acid synthesis. The present authors...

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Source

Identifiers

PMID: 12000359
DOI: 10.1034/j.1399-0004.2002.610303.x

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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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Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.PMID 12000359Read ↗

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