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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
  1. May Christine V Malicdan1,2,
  2. Thierry Vilboux2,3,
  3. Joshi Stephen2,
  4. Dino Maglic2,
  5. Luhe Mian2,
  6. Daniel Konzman2,
  7. Jennifer Guo2,
  8. Deniz Yildirimli2,
  9. Joy Bryant2,
  10. Roxanne Fischer2,
  11. Wadih M Zein4,
  12. Joseph Snow5,
  13. Meghana Vemulapalli6,
  14. James C Mullikin6,
  15. Camilo Toro1,
  16. Benjamin D Solomon3,
  17. John E Niederhuber8,
  18. NISC Comparative Sequencing Program6,
  19. William A Gahl1,2,7,
  20. Meral Gunay-Aygun2,7
  1. 1NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA
  2. 2Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  3. 3Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA
  4. 4Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
  5. 5Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
  6. 6NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  7. 7Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  8. 8Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia, USA
  1. Correspondence to Dr Meral Gunay-Aygun, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bldg 10, Rm 10C103C, Bethesda, MD 20892-1851, USA; mgaygun{at}mail.nih.gov

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