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Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
  1. L Pasquier1,
  2. V Laugel2,
  3. L Lazaro1,
  4. H Dollfus2,
  5. H Journel3,
  6. P Edery4,
  7. A Goldenberg5,
  8. D Martin6,
  9. D Heron7,
  10. M Le Merrer5,
  11. P Rustin5,
  12. S Odent1,
  13. A Munnich5,
  14. A Sarasin8,
  15. V Cormier-Daire5
  1. 1Unité de Génétique Clinique, Hôpital Sud, 35203 Rennes, France
  2. 2Fédération de Génétique Médicale, Hôpitaux Universitaires, 67098 Strasbourg, France
  3. 3Unité de Génétique Clinique, Hôpital Prosper Chubert, 56000 Vannes, France
  4. 4Service de Génétique Médicale, Hôtel-Dieu, 69000 Lyon, France
  5. 5Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France
  6. 6Laboratoire de Cytogénétique, Hôpital Fontenoy, 72000 Le Mans, France
  7. 7Service de Génétique Médicale, Hôpital Pitié-Salpétrière, 75013 Paris, France
  8. 8Laboratoire Instabilité Génétique et Cancer, UPR 2169–CNRS, Institut Gustave Roussy 94805 Villejuif, France
  1. Correspondence to:
    Dr L Pasquier
    Unité de Génétique Clinique, 16 Bd de Bulgarie–Hôpital Sud, BP 90347, 35203 Rennes cedex 2, France; laurent.pasquier{at}chu-rennes.fr

Footnotes

  • Fundings: this work was supported by the GIS–Institut des Maladies Rares

  • Competing interests: none declared

  • Consent was obtained for publication of the figure

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Footnotes

  • Fundings: this work was supported by the GIS–Institut des Maladies Rares

  • Competing interests: none declared

  • Consent was obtained for publication of the figure

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