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Article

Ocular findings and genetic test in Alström syndrome in childhood.

Experimental eye research - 1 Dec 2022

Wang You, Huang Li, Sun Limei, Li Songshan, Zhang Zhaotian, Zhang Ting, Lai Yanting, Ding Xiaoyan

Abstract excerpt

This study aimed to investigate the mutation spectrums and ocular features of Alström syndrome (AS) patients. Six AS patients from five unrelated families were included. Ocular and systemic examinations were performed in all subjects. Whole-exome sequencing (WES) was performed in the probands, and Sanger sequencing was performed for mutation validation and segregation analysis. Among the six patients, the first...

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PMID: 36206858
DOI: 10.1016/j.exer.2022.109277

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