Article
WES and Transcriptome Analysis Identifies FN1 as a Candidate Gene for Anterior Segment Dysgenesis.
The journal of gene medicine - 1 Dec 2024
Lin Qinghong, Wang Xuejun, Han Xiaosong, Peng Xiaoliao, Zhang Xiaoyu, Ran Yuwen, Sun Ling, Wang Yan, Han Tian, Zhou Xingtao
Abstract excerpt
BACKGROUND: Anterior segment dysgenesis (ASD) disorders are phenotypically diverse and have multiple associated genes. This study reports on a Chinese family of three generations with ASD disorders and identifies several associated genes and pathways of the disorders. METHODS: The history of illnesses, clinical observations, and blood samples of all family members were collected. Whole exome sequencing (WES) and...
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