@article{GirschickWolfMorbachetal.2015, author = {Hermann Girschick and Christine Wolf and Henner Morbach and Christoph Hertzberg and Min Ae Lee-Kirsch}, title = {Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene}, journal = {Pediatric Rheumatology}, volume = {13}, number = {37}, doi = {10.1186/s12969-015-0035-7}, year = {2015}, }