Title: Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings
Abstract: Purpose/aim of the study Cerebrotendinous xanthomatosis is a disease with important clinical and molecular heterogeneity. CYP27A1 gene was described as the cause of these defects, with more than 50 mutations involved in the disease. The objective of this study was to carry out a genetic study and a clinical description of a patient with unusual clinical manifestation of the disease.
Publication Year: 2024
Publication Date: 2024-01-12
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 1
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