Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Wen-Bin ZhengLu-Jiao LiDi-Chen ZhaoOu WangYan JiangWei-Bo XiaXiao-Ping XingMei LiPublished in: Molecular genetics & genomic medicine (2020)
We identified two novel disease-associated variants in COL2A1, which led to severe SEDC. Our findings expanded the gene variant spectrum and phenotypic spectrum of extremely rare type II collagenopathies.