Konu "Xanthomatosis" için Tıp Fakültesi listeleme
Toplam kayıt 1, listelenen: 1-1
-
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 ...