Article
Four novel CYP27A1 mutations in seven Italian patients with CTX.
European journal of neurology - 1 Oct 2010
Gallus G N, Dotti M T, Mignarri A, Rufa A, Da Pozzo P, Cardaioli E, Federico A
Abstract excerpt
BACKGROUND AND PURPOSE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27-hydroxylase deficiency. Clinical manifestations of CTX are tendon xanthomas, juvenile cataracts, osteoporosis, diarrhoea and multiple progressive neurological dysfunctions. More than 300 patients with CTX have been reported to date worldwide and about fifty different mutations identified in...
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