_:vb50944960 "url:https://www.ncbi.nlm.nih.gov/pubmed/18348257"^^ . _:vb50944960 "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^ . _:vb50944960 . _:vb50944960 . _:vb50944960 . _:vb50944960 . _:vb50944960 "url:https://ghr.nlm.nih.gov/condition/metatropic-dysplasia"^^ . _:vb50944960 . _:vb50944960 . _:vb50944960 "url:https://www.ncbi.nlm.nih.gov/pubmed/4963592"^^ .