"Parastremmatic dwarfism"

1 resultsPro users have access to +0 Systematic Reviews

Filter Results
          • Pro
          • Pro
          • Pro
          • Pro
          • Pro
          • Pro
                    • Pro

                            Clinical Area Pro

                            Further Refinement
                            User Guide

                            User Guide

                            1
                            of TRPV4 abundance at the cell surface is critical for osmo- and mechanotransduction. Defects in TRPV4 are the cause of several human diseases, including brachyolmia type 3 (MIM:113500) (also known as brachyrachia or spondylometaphyseal dysplasia Kozlowski type [MIM:118452]), and metatropic dysplasia (MIM:156530) (also called metatropic dwarfism or parastremmatic dwarfism [MIM:168400]). These bone