Title: SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
Authors: Tadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, Krzysztof Bik, Lukasz Kuszel, Ewa Wasilewska, Kazimierz Kozlowski, Malwina Czarny-Ratajczak
Publication type: article