_:vb50946265 . _:vb50946265 . _:vb50946265 . _:vb50946265 . _:vb50946265 "url:https://pubmed.ncbi.nlm.nih.gov/15316962/"^^ . _:vb50946265 "url:https://pubmed.ncbi.nlm.nih.gov/8723097/"^^ . _:vb50946265 "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."^^ . _:vb50946265 .