Associated Papers
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.
Jiang J et al.
Frontiers in Genetics, 2020
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
Abdel-Hamid MS et al.
Metabolic Brain Disease, 2017
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