Somatic and germline mosaicism for a R248C missense mutation inFGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

Valentine J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, John Masel, Mark Hayes, Ian A. Glass
  • American Journal of Medical Genetics, June 2003, Wiley
  • DOI: 10.1002/ajmg.a.20012

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http://dx.doi.org/10.1002/ajmg.a.20012

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