240 research outputs found
An atypical phenotype of Reis-BĂŒcklers corneal dystrophy caused by the G623D mutation in TGFBI
Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families
Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study
Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
A novel mutation in GJA8 causing congenital cataractâmicrocornea syndrome in a Chinese pedigree
Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
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