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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
  1. A Moore1,2,
  2. E Escudier2,3,
  3. G Roger4,
  4. A Tamalet5,
  5. B Pelosse6,
  6. S Marlin4,
  7. A Clément5,
  8. M Geremek7,
  9. B Delaisi8,
  10. A-M Bridoux1,
  11. A Coste2,
  12. M Witt7,
  13. B Duriez1,
  14. S Amselem1
  1. 1Institut National de la Santé et de la Recherche Médicale U. 654, Hôpital Henri-Mondor, Créteil, France
  2. 2Institut National de la Santé et de la Recherche Médicale U. 651, Faculté de Médecine, Créteil, France
  3. 3Département de Génétique-Cytogénétique-Embryologie, Groupe Hospitalier Pitié-Salpêtrière (AP-HP), Paris, France
  4. 4Service d’Oto-Rhino-Laryngologie, Hôpital Armand-Trousseau (AP-HP), Paris, France
  5. 5Département de Gastro-Entérologie, Pneumologie et Allergologie Pédiatriques, Hôpital Armand-Trousseau (AP-HP), Paris, France
  6. 6Service d’Ophtalmologie, Hôpital Armand-Trousseau (AP-HP), Paris, France
  7. 7Institute of Human Genetics, Polish Academy of Sciences, Poznañ, Poland
  8. 8Service de Gastro-Entérologie-Mucoviscidose et Nutrition Pédiatriques, Hôpital Robert-Debré (AP-HP), Paris, France
  1. Correspondence to:
 Dr Serge Amselem
 INSERM U. 654 Hôpital Henri-Mondor, 51, avenue du Maréchal de Lattre-de-Tassigny, 94010 Créteil cedex, France; serge.amselem{at}im3.inserm.fr

Footnotes

  • Published Online First 31 July 2005

  • This work was supported by grants from the GIS Maladies Rares (A03091), the Assistance Publique-Hôpitaux de Paris (CRC 96125), and the Legs Poix from the Chancellerie des Universités. A Moore is the recipient of a fellowship from the Ministère de l’éducation nationale, de l’enseignement supérieur et de la recherche.

  • Competing interests: none declared

  • Consent was received for the publication of these patient details

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Footnotes

  • Published Online First 31 July 2005

  • This work was supported by grants from the GIS Maladies Rares (A03091), the Assistance Publique-Hôpitaux de Paris (CRC 96125), and the Legs Poix from the Chancellerie des Universités. A Moore is the recipient of a fellowship from the Ministère de l’éducation nationale, de l’enseignement supérieur et de la recherche.

  • Competing interests: none declared

  • Consent was received for the publication of these patient details

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