Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline
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DOI: 10.1111/cyt.12573
Abstract: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by inactivating mutations in the CYP27A1 gene, encoding for sterol 21-hydroxylase, a mitochondrial enzyme, involved in bile acid synthesis. First reported by Bogaert in… read more here.
Keywords: xanthomatosis; xanthomatosis two; cytological diagnosis; cerebrotendinous xanthomatosis ... See more keywords