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Novel mutation of the TRPV4 gene in a patient with MD. (A, B) Anterior (A) and lateral (B) views of radiographs of the patient with MD studied here. (C) DNA sequence of TRPV4 from Ctrl- and MD-DPSCs. (D) Schematic diagram of TRPV4's predicted structure and the position of the mutation identified in this study. PRD, proline-rich domain; ARD, ankyrin repeat domain; S1–S6, transmembrane segments; pore, Ca2+ pore domain; CaM, calmodulin binding motif.
