. . . . . "COL2A1" . . . . "Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type." . . . . "2018-04-05T10:17:11.353+02:00"^^ . . . . . .