Articles with "clinicogenetic characterization" as a keyword



Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil

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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… read more here.

Keywords: genetics; brazil; clinicogenetic characterization; ctx ... See more keywords