Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
Denais C, Dent CL, Southgate L, Hoyle J, Dafou D, Trembath RC, Machado RD. Hum Mutat. 2011 Feb; 32(2):231-9.