SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.
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P. Beighton | M. Czarny-Ratajczak | K. Kozłowski | T. Biegański | E. Wasilewska | M. Lukaszewski | K. Bik | Lukasz Kuszel | M. Czarny‐Ratajczak