TY - JOUR T1 - 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. JO - Hum Mutat UR - http://eprints.whiterose.ac.uk/80553/ PY - 2011/09/15 AU - Jackson GC AU - Mittaz-Crettol L AU - Taylor JA AU - Mortier GR AU - Spranger J AU - Zabel B AU - Le Merrer M AU - Cormier-Daire V AU - Hall CM AU - Offiah A AU - Wright MJ et al ED - DO - DOI: 10.1002/humu.21611 VL - 33 IS - 1 SP - 144 EP - 157 Y2 - 2025/09/19 ER -