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Article

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Orphanet journal of rare diseases - 17 Jan 2023

Pramparo Tiziano, Steiner Robert D, Rodems Steve, Jenkinson Celia

Abstract excerpt

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement. CTX is likely underdiagnosed, and prevalence estimates based on case diagnosis are probably inaccurate. Large population-based genomic databases are a valuable resource to...

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Identifiers

PMID: 36650582
DOI: 10.1186/s13023-022-02578-1
PMCID: PMC9843874

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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