Research Article

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR†

  1. Dana J. Orten1,
  2. Stephanie M. Fischer2,
  3. Jessica L. Sorensen2,
  4. Uppala Radhakrishna1,
  5. Cor W.R.J. Cremers3,
  6. Henri A.M. Marres3,
  7. Guy Van Camp4,
  8. Katherine O. Welch5,
  9. Richard J.H. Smith2,
  10. William J. Kimberling1,*

Article first published online: 25 JAN 2008

DOI: 10.1002/humu.20691

Issue

Human Mutation

Human Mutation

Special Issue: Focus on Pharmacogenetics

Volume 29, Issue 4, pages 537–544, April 2008

Additional Information

How to Cite

Orten, D. J., Fischer, S. M., Sorensen, J. L., Radhakrishna, U., Cremers, C. W.R.J., Marres, H. A.M., Van Camp, G., Welch, K. O., Smith, R. J.H. and Kimberling, W. J. (2008), Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum. Mutat., 29: 537–544. doi: 10.1002/humu.20691

Author Information

  1. 1

    Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska

  2. 2

    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa

  3. 3

    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

  4. 4

    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

  5. 5

    Department of Biology, Gallaudet University, Washington, DC

*Department of Genetics, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68164

  1. †

    Communicated by Maria Rita Passos-Bueno

Publication History

  1. Issue published online: 10 MAR 2008
  2. Article first published online: 25 JAN 2008
  3. Manuscript Accepted: 31 OCT 2007
  4. Manuscript Received: 31 JAN 2007

Funded by

  • National Institutes of Health (NIH)–National Institute of Dental and Craniofacial Research (NIDCR). Grant Number: 5R01DE014090-04
  • NIH–National Institute on Deafness and Other Communication Disorders (NIDCD). Grant Numbers: 5R01DC003544-09, 5R01DC04293

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