An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia.
Ting XuLiang ShiWeiqian DaiXuefan GuYong-Guo YuYanjie FanPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2021)
Our results strongly suggest that c.1075 + 95C>G is a recurrent mutation and should be included in genetic testing of FGFR3 especially for those patients with equivocal clinical findings and no exonic mutations identified.
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