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http://dx.doi.org/10.22742/JIG.2020.2.2.13

FRMD7-associated Infantile Nystagmus Syndrome  

Choi, Kwang-Dong (Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute)
Choi, Jae-Hwan (Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital)
Publication Information
Journal of Interdisciplinary Genomics / v.2, no.2, 2020 , pp. 13-17 More about this Journal
Abstract
Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. To date, more than 100 genes have been reported to cause INS and there is significant overlap in phenotypic characteristics. The most common form of X-linked INS is attributed to FRMD7 at Xq26. Recent advances in molecular genetics have facilitated the identification of pathogenic variants of FRMD7 and the investigation for underlying mechanisms of FRMD7-associated INS. This review summarizes genetic and clinical features of FRMD7-associated INS, and introduces updates on the pathogenesis of FRMD7 mutation.
Keywords
Infantile nystagmus syndrome; FRMD7;
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