Reference number: 110
Description:
Renella, R., Schaefer, E., LeMerrer, M., Alanay, Y., Kandemir, N., Eich, G., Costa, T., Ballhausen, D., Boltshauser, E., Bonafé, L., Giedion, A., Unger, S. and Superti-Furga, A. (2006), Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder. Am. J. Med. Genet., 140A: 541–550. doi: 10.1002/ajmg.a.31081.