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 Medical Genetics | Published : 2003

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