Cerebrotendinous xanthomatosis without xanthomas.
Gilad
R
R
Lampl
Y
Y
Lev
D
D
Sadeh
M
M
D000328:Adult; D006801:Humans; D008297:Male; D010375:Pedigree; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology