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Published in 2024 at "Clinical Genetics"
DOI: 10.1111/cge.14602
Abstract: 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…
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Keywords:
genetics;
brazil;
clinicogenetic characterization;
ctx ... See more keywords