Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

Abstract 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...

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Bibliographic Details
Main Authors: Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Allele frequency
Rare metabolic disease
Cerebrotendinous xanthomatosis (CTX)
Genomic variation
Pathogenic variants
Online Access:https://doi.org/10.1186/s13023-022-02578-1

Internet

https://doi.org/10.1186/s13023-022-02578-1

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