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Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.
Cheng Chien-Chien, Lin Chien-Yu, Ko Ting-Chieh, Huang Yu-Shu, Huang Chu-Hsuan, Yang Chang-Hao et al.
Transl Vis Sci TechnolJun 20251 citationsCase Series
Taiwanese Alström syndrome patients showed variable ocular and systemic features, with a common Asian genotype linked to severe disease, while a novel LINE-1 insertion correlated with milder phenotypes, aiding diagnosis.