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  - 2024/09/19

ER  -