Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type
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R. Pauli | N. Sobreira | M. Seong | P. Modaff | O. Kim | S. Seo | Sung-Sup Park | T-J Cho | C. Reiser | J. Jurgens