Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant
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Background: Cerebrotendinous xanthomatosis (CTX) is a rare yet treatable neurometabolic disorder caused by pathogenic variants in the CYP27A1 gene. Juvenile-onset cataracts may precede systemic signs, allowing for early diagnosis... ...
