Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Springer Science and Business Media LLC - Tập 13 - Trang 1-1 - 2015
H Girschick1, C Wolf1, H Morbach1, C Hertzberg1, MA Lee-Kirsch1
1Vivantes Childrens Hospital Berlin, Pediatrics, Germany