Cerebrotendinous Xanthomatosis (CTX): An Association of Pulverulent Cataracts and Pseudo-Dominant Developmental Delay in a Family with a Splice Site Mutation in CYP27A1— A Case Report

Author: Bourkiza Rabia   Joyce Sarah   Patel Himanshu   Chan Michelle   Meyer Esther   Maher Eamonn R.   Reddy M. Ashwin  

Publisher: Informa Healthcare

ISSN: 1381-6810

Source: Ophthalmic Genetics, Vol.31, Iss.2, 2010-06, pp. : 73-76

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