Journal article
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
VJ Hyland, SP Robertson, S Flanagan, R Savarirayan, T Roscioli, J Masel, M Hayes, IA Glass
American Journal of Human Genetics | WILEY | Published : 2003
DOI: 10.1002/ajmg.a.20012