Research Article

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability†

  1. Marjolijn C.J. Jongmans1,
  2. Lies H. Hoefsloot1,
  3. Kim P. van der Donk1,
  4. Ronald J. Admiraal2,
  5. Alex Magee3,
  6. Ingrid van de Laar4,
  7. Yvonne Hendriks5,
  8. Joke B.G.M. Verheij6,
  9. Ian Walpole7,
  10. Han G. Brunner1,
  11. Conny M.A. van Ravenswaaij1,6,*

Article first published online: 11 DEC 2007

DOI: 10.1002/ajmg.a.31921

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 146A, Issue 1, pages 43–50, 1 January 2008

Additional Information

How to Cite

Jongmans, M. C.J., Hoefsloot, L. H., van der Donk, K. P., Admiraal, R. J., Magee, A., van de Laar, I., Hendriks, Y., Verheij, J. B.G.M., Walpole, I., Brunner, H. G. and van Ravenswaaij, C. M.A. (2008), Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability. Am. J. Med. Genet., 146A: 43–50. doi: 10.1002/ajmg.a.31921

Author Information

  1. 1

    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

  2. 2

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

  3. 3

    Regional Genetics Service, Belfast City Hospital, Belfast, United Kingdom

  4. 4

    Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands

  5. 5

    Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands

  6. 6

    Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands

  7. 7

    Genetic Services of Western Australia, Princess Margaret Hospital, Subiaco, Australia

*Department of Genetics, University Medical Centre Groningen, P.O.Box 30.001, 9700 RB Groningen.

  1. †

    How to cite this article: Jongmans MCJ, Hoefsloot LH, van der Donk KP, Admiraal RJ, Magee A, van de Laar I, Hendriks Y, Verheij JBGM, Walpole I, Brunner HG, van Ravenswaaij CMA. 2007. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet Part A 146A:43–50.

Publication History

  1. Issue published online: 19 DEC 2007
  2. Article first published online: 11 DEC 2007
  3. Manuscript Accepted: 27 MAY 2007
  4. Manuscript Received: 1 SEP 2006

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