Article

Allelic Prevalence and Geographic Distribution of Cerebrotendinous Xanthomatosis

2022-08-23

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the <italic>CYP27A1</italic> 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-...

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Literature Corpus work: eadae0da-cc82-5c44-91aa-dca0e5bf2041
DOI: 10.21203/rs.3.rs-1942700/v1

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