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Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.

BMC medical genomics - 7 Jan 2025

Duan Wenhua, Zhou Taicheng, Huang Xiaoru, He Dongqiong, Hu Min

Abstract excerpt

PURPOSE: To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing. METHODS: In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled. Whole-exome sequencing was used to screen mutational profiles in 25 affected individuals and 10 unaffected individuals. Sanger sequencing and in silico analysis...

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PMID: 39773702
DOI: 10.1186/s12920-024-02078-0

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