Reference number: 112
Description:
Navarro, V., Scott, C., Briggs, T.A., Barete, S., Frances, C., Lebon, P., Maisonobe, T., Rice, G.I., Wouters, C.H. and Crow, Y.J. (2008), Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation. Am. J. Med. Genet., 146A: 2810–2815. doi: 10.1002/ajmg.a.32518.