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Article

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.

Clinical genetics - 1 Dec 2024

Fussiger Helena, Lima Pedro Lucas G S B, Souza Paulo V S, Freua Fernando, Husny Antonette S E, Leão Emília K E A, Braga-Neto Pedro, Kok Fernando, Lynch David S, Saute Jonas A M, Nóbrega Paulo R

Abstract excerpt

There are few cerebrotendineous xanthomatosis (CTX) case series and observational studies including a significant number of Latin American patients. We describe a multicenter Brazilian cohort of patients with CTX highlighting their clinical phenotype, recurrent variants and assessing possible genotype-phenotype correlations. We analyzed data from all patients with clinical and molecular or biochemical diagnosis...

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Source

Identifiers

PMID: 39099467
DOI: 10.1111/cge.14602

Genes

CYP27A1

Provenance

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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