A Novel Variant of the FZD4 Gene in a Chinese Family Causes Autosomal Dominant < b > < i > Familial Exudative Vitreoretinopathy < /i > < /b >

Conclusion: Our study is the first to identify that the novel heterozygous variant c.A749G (p.Y250C) in theFZD4 gene may be the disease-causing mutation in this FEVR family, extending its mutation spectrum. These findings further our understanding of the molecular pathogenesis of FEVR and will facilitate the development of methods for the diagnosis, prevention, and genetic counseling of this disease.Cell Physiol Biochem 2018;51:2445 –2455
Source: Cellular Physiology and Biochemistry - Category: Cytology Source Type: research