Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Authors

Courage C1,2, Jackson CB3, Owczarek-Lipska M4, Jamsheer A5,6, Sowińska-Seidler A5, Piotrowicz M7, Jakubowski L7, Dallèves F2, Riesch E8, Neidhardt J4, Lemke JR9.
  1. Folkhälsan Research Center, Helsinki, Finland.
  2. Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Bern, Switzerland.
  3. Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  4. Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.
  5. Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  6. Centers for Medical Genetics GENESIS, Poznan, Poland.
  7. Department of Genetics, Polish Mother’s Memorial Hospital Research Institute, Poland
  8. CeGaT GmbH-Center for Genomics and Transcriptomics, Tübingen, Germany.
  9. Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.