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Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase. Clinically, CTX is characterized by tendon xanthomas, premature atherosclerosis, juvenile cataracts and progressiv...

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Bibliographic Details
Main Authors:	Jeng Yuan (Author), Pi-Shan Sung (Author), Julia Yu-Yun Lee (Author), Sheau-Chiou Chao (Author)
Format:	Book
Published:	Wolters Kluwer Medknow Publications, 2018-12-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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