Article
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?
Bone - 1 Mar 2020
Whyte Michael P, Amalnath S Deepak, McAlister William H, McKee Marc D, Veis Deborah J, Huskey Margaret, Duan Shenghui, Bijanki Vinieth N, Alur Suhas, Mumm Steven
Abstract excerpt
The SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 (DMP1), secreted phosphoprotein-1 (SPP1) also called osteopontin (OPN), integrin-binding sialoprotein (IBSP) also called bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), and dentin sialophosphoprotein (DSPP)]. Each...
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