Konu "Juvenile bilateral cataract" için listeleme
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Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review
(SPRINGER, 2023)Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomalrecessive disease that occurs as result of mutation in the CYP27A1 gene. Theclinical presentation of the disease is quite wide. We planned to briefyreview ...