Article
Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.
Molecular vision - 16 Sept 2005
Yao Ke, Tang Xiajing, Shentu Xingchao, Wang Kaijun, Rao Huiying, Xia Kun
Abstract excerpt
PURPOSE: To report and identify the genetic defect that causes progressive polymorphic congenital cataracts affecting a large five generation Chinese family. METHODS: Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. Genetic linkage analysis was performed on the known genetic loci for autosomal dominant congenital cataract (ADCC) with 41 short tandem...
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