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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling†‡

  1. Valérie Pelletier1,
  2. Marguerite Jambou1,
  3. Nathalie Delphin1,
  4. Elena Zinovieva1,
  5. Morgane Stum1,
  6. Nadine Gigarel1,
  7. Hélène Dollfus2,
  8. Christian Hamel3,
  9. Annick Toutain4,
  10. Jean-Louis Dufier5,
  11. Olivier Roche5,
  12. Arnold Munnich1,
  13. Jean-Paul Bonnefont1,
  14. Josseline Kaplan1,*,
  15. Jean-Michel Rozet1

Article first published online: 12 SEP 2006

DOI: 10.1002/humu.20417

Issue

Human Mutation

Human Mutation

Volume 28, Issue 1, pages 81–91, January 2007

Additional Information

How to Cite

Pelletier, V., Jambou, M., Delphin, N., Zinovieva, E., Stum, M., Gigarel, N., Dollfus, H., Hamel, C., Toutain, A., Dufier, J.-L., Roche, O., Munnich, A., Bonnefont, J.-P., Kaplan, J. and Rozet, J.-M. (2007), Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling. Hum. Mutat., 28: 81–91. doi: 10.1002/humu.20417

Author Information

  1. 1

    Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, neurosensorielles et du Développement; Institut Nationale de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker–Enfants Malades, Paris, France

  2. 2

    Service de Génétique Médicale, Hôpital de Haute-Pierre, Strasbourg, France

  3. 3

    Unité INSERM 583, Hôpital Saint-Eloi, Montpellier, France

  4. 4

    Service de Génétique Médicale, Centre Hospitalo-Universitaire, Tours, France

  5. 5

    Servive d'Ophtalmologie, Hôpital Necker–Enfants Malades, Paris, France

*Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, neurosensorielles et du Développement. INSERM U781. Hôpital Necker–Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France

  1. †

    Communicated by Daniel F. Schorderet

  2. ‡

    Valérie Pelletier and Marguerite Jambou contributed equally to this work.

Publication History

  1. Issue published online: 7 DEC 2006
  2. Article first published online: 12 SEP 2006
  3. Manuscript Accepted: 25 JUL 2006
  4. Manuscript Received: 27 APR 2006

Funded by

  • Association Retina France

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