Clinical Report

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr†

  1. Eva Barroso1,2,
  2. Virginia Pérez-Carrizosa1,2,
  3. Ignacio García-Recuero3,
  4. Marc J. Glucksman4,
  5. Andrew O. Wilkie5,
  6. Sixto García-Minaur1,2,
  7. Karen E. Heath1,2,*

Article first published online: 28 OCT 2011

DOI: 10.1002/ajmg.a.34199

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 155, Issue 12, pages 3050–3053, December 2011

Additional Information

How to Cite

Barroso, E., Pérez-Carrizosa, V., García-Recuero, I., Glucksman, M. J., Wilkie, A. O., García-Minaur, S. and Heath, K. E. (2011), Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. Am. J. Med. Genet., 155: 3050–3053. doi: 10.1002/ajmg.a.34199

Author Information

  1. 1

    Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain

  2. 2

    Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

  3. 3

    Unit of Oral and Maxilofacial Surgery, Hospital Universitario Doce de Octubre, Madrid, Spain

  4. 4

    Department of Biochemistry and Molecular Biology, Midwest Proteome Center, Rosalind Franklin University of Medicine and Science, Chicago Medical School, Chicago, Illinois

  5. 5

    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK

*Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, P° Castellana 261, 28046 Madrid, Spain.

  1. †

    How to Cite this Article: Barroso E, Pérez-Carrizosa V, García-Recuero I, Glucksman MJ, Wilkie AO, García-Minaur S, Heath KE. 2011. Mild isolated Craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. Am J Med Genet Part A 155: 3050–3053.

Publication History

  1. Issue published online: 21 NOV 2011
  2. Article first published online: 28 OCT 2011
  3. Manuscript Accepted: 16 JUN 2011
  4. Manuscript Received: 7 MAR 2011

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View Full Article with Supporting Information (HTML) Get PDF (637K)