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[Zonular juvenile cataract and cerebrotendinous xanthomatosis].

作者信息

Farpour H

出版信息

Klin Monbl Augenheilkd. 1990 May;196(5):407-10. doi: 10.1055/s-2008-1046209.

DOI:10.1055/s-2008-1046209
PMID:2114502
Abstract

The present paper describes two cases, with the same type of zonular cataract associated with the rare disease of cerebrotendinous xanthomatosis. The disease is characterized by lipopexia in the Achilles' tendons, neurologic symptoms and low IQ. The mode of inheritance is autosomal recessive. The physiopathology and biochemistry of the disease are discussed with reference to recent publications.

摘要

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