Associated Papers
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
O'Keefe E et al.
European Journal of Neurology, 2025
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
Appadurai V et al.
Molecular Genetics and Metabolism, 2015
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