GenomicsHumansNystagmusCongenitalMaleGenetic Diseases
Functional analysis of a novel segment deletion in the FRMD7 gene causing X-linked idiopathic congenital nystagmus.
Xiaoli Zhao, Xinyang Li, Jian Yuan, Xiaolei Wang, Qinxue Meng, Xinwen Zhang
Published: 202510.1016/j.ygeno.2025.111138
Abstract
Idiopathic congenital nystagmus (ICN) is characterized by involuntary horizontal eye oscillations and is frequently associated with X-linked FRMD7 mutations. Despite over 150 FRMD7 variants have been reported, their pathogenic mechanisms remain poorl…
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