_:vb50941936 . _:vb50941936 "url:https://pubmed.ncbi.nlm.nih.gov/28067412/"^^ . _:vb50941936 . _:vb50941936 . _:vb50941936 . _:vb50941936 "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22."^^ .