Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. [electronic resource]
- Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research May 2011
- 920-33 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1523-4681
10.1002/jbmr.283 doi
Adolescent Adult Camurati-Engelmann Syndrome--diagnostic imaging Child DNA Mutational Analysis Humans Infant, Newborn Male Middle Aged Mutation, Missense--genetics RANK Ligand--genetics Radiography Transforming Growth Factor beta1--genetics Young Adult