Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings
Author:
Affiliation:
1. Facultad de Ciencias Médicas de la Universidad de Guayaquil-Ecuador, Guayaquil, Ecuador
2. Pronacera Therapeutics, R&D, Sevilla, España
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
https://www.tandfonline.com/doi/pdf/10.1080/00207454.2023.2300735
Reference36 articles.
1. Carson BE, De Jesus O. Cerebrotendinous xanthomatosis. Treasure Island (FL): StatPearls; 2023.
2. De Carvalho M Dhamija R Nadjar Y et al. Cerebrotendinous xanthomatosis: a practice review of pathophysiology diagnosis and treatment. Front Neurol. 2022;13:1049850.
3. Cerebrotendinous xanthomatosis: A moroccan case report and review of literature
4. Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments
5. Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene
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1. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals;Molecular Genetics and Metabolism;2024-06
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