# Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving CYP27A1(C.526del)

**Authors:** Ajitesh Roy, Sounak Kumar Roy, Soumyadip Das

PMC · DOI: 10.1210/jcemcr/luaf153 · JCEM Case Reports · 2025-07-16

## Full-text entities

- **Genes:** CYP27A1 (cytochrome P450 family 27 subfamily A member 1) [NCBI Gene 1593] {aka CP27, CTX, CYP27}
- **Diseases:** Cerebrotendinous Xanthomatosis (MESH:D019294)
- **Mutations:** C.526del

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Source: https://tomesphere.com/paper/PMC12264422