Identification of an Autosomal Dominant Mutation in the < b > < i > COL2A1 < /i > < /b > Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family

In conclusion, we describe a patient with hereditary spondyloepiphyseal dysplasia congenita, caused by a c.1609G_A (p.Gly537Ser) mutation in theCOL2A1 gene, which resulted in a milder phenotype.Mol Syndromol 2018;9:241-246
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research