_:vb50945043 "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."^^ . _:vb50945043 . _:vb50945043 "url:https://www.ncbi.nlm.nih.gov/pubmed/2229114"^^ . _:vb50945043 . _:vb50945043 . _:vb50945043 "url:https://www.ncbi.nlm.nih.gov/pubmed/20503319"^^ . _:vb50945043 . _:vb50945043 .