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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
  1. D Sanlaville1,*,
  2. H C Etchevers1,*,
  3. M Gonzales2,*,
  4. J Martinovic1,
  5. M Clément-Ziza1,
  6. A-L Delezoide3,
  7. M-C Aubry4,
  8. A Pelet1,
  9. S Chemouny4,
  10. C Cruaud5,
  11. S Audollent1,
  12. C Esculpavit1,
  13. G Goudefroye1,
  14. C Ozilou1,
  15. C Fredouille2,
  16. N Joye2,
  17. N Morichon-Delvallez1,
  18. Y Dumez4,
  19. J Weissenbach5,
  20. A Munnich1,
  21. J Amiel1,
  22. F Encha-Razavi1,
  23. S Lyonnet1,
  24. M Vekemans1,
  25. T Attié-Bitach1
  1. 1Département de Génétique et Unité INSERM U-393, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France
  2. 2Unité de Foetopathologie, Hôpital Saint Antoine, AP-HP, 75012 Paris, France
  3. 3Service de Biologie du Développement, Hôpital Robert Debré, AP-HP, 75019 Paris, France
  4. 4Service d’Obstétrique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France
  5. 5Genoscope and CNRS UMR8030, Evry, France
  1. Correspondence to:
 T Attié-Bitach
 Département de Génétique et Unité INSERM U-393, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France; tania.attie{at}necker.fr

Footnotes

  • * These authors contributed equally to this work

  • Published Online First 23 September 2005

  • DS was supported by the Programme de Recherche Clinique AOM 02-122. HCE was supported by the Association Française contre les Myopathies and the INSERM Avenir program

  • Competing interests: none declared

  • Consent has been given for the publication of the details in this report

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Footnotes

  • * These authors contributed equally to this work

  • Published Online First 23 September 2005

  • DS was supported by the Programme de Recherche Clinique AOM 02-122. HCE was supported by the Association Française contre les Myopathies and the INSERM Avenir program

  • Competing interests: none declared

  • Consent has been given for the publication of the details in this report

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