A case of cerebrotendinous xanthomatosis presenting with drug-resistant epilepsy as an ınitial symptom with a novel c670_671delaa, p. K224tfs*63 mutation in the cyp27a1 gene
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A case of cerebrotendinous xanthomatosis presenting with drug-resistant epilepsy as an ınitial symptom with a novel c670_671delaa, p. K224tfs*63 mutation in the cyp27a1 gene