@article{article, title = {{Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.}}, url = {{http://eprints.whiterose.ac.uk/80553/ }}, year = {{2011}}, month = {{9}}, author = {{Jackson GC and Mittaz-Crettol L and Taylor JA and Mortier GR and Spranger J and Zabel B and Le Merrer M and Cormier-Daire V and Hall CM and Offiah A and Wright MJ et al}}, doi = {{10.1002/humu.21611}}, volume = {{33}}, journal = {{Hum Mutat}}, issue = {{1}}, pages = {{144-157}}, note = {{Accessed on 2024/09/19}}}