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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
  1. M A Parisi1,
  2. D Doherty1,
  3. M L Eckert1,
  4. D W W Shaw2,
  5. H Ozyurek3,
  6. S Aysun3,
  7. O Giray4,
  8. A Al Swaid5,
  9. S Al Shahwan5,
  10. N Dohayan5,
  11. E Bakhsh6,
  12. O S Indridason7,
  13. W B Dobyns8,
  14. C L Bennett1,
  15. P F Chance1,
  16. I A Glass1
  1. 1Department of Pediatrics, Children’s Hospital and Regional Medical Center and the University of Washington, Seattle, WA, USA
  2. 2Department of Radiology, Children’s Hospital and Regional Medical Center and the University of Washington, Seattle, WA, USA
  3. 3Department of Pediatrics, Hacettepe University, Ankara, Turkey
  4. 4Department of Pediatric Genetics, Dokuz Eylul University, Izmir, Turkey
  5. 5Department of Paediatrics, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia
  6. 6Department of Radiology, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia
  7. 7Department of Medicine, Landspitali-University Hospital, Reykjavik, Iceland
  8. 8Department of Human Genetics, University of Chicago, Chicago, IL, USA
  1. Correspondence to:
 Dr Melissa A Parisi
 Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Box 356320, 1959 NE Pacific St, Seattle, WA 98195, USA; mparisi{at}u.washington.edu

Footnotes

  • Published Online First 9 September 2005

  • This work was supported by National Institutes of Health grants P30-HD02274, K23-NS45832 (MAP), and K24-HD46712 (IAG); the March of Dimes Endowment for Healthier Babies at Children’s Hospital in Seattle; and the Center for Neurogenetics and Neurotherapeutics, University of Washington

  • Competing interests: none declared

  • Ethics approval was provided under a protocol approved by the University of Washington Human Subject Division (#97-6328-B 07) and at Hacettepe University, Turkey. Approval to participate in these research studies was provided under a protocol of informed consent as outlined in the Methods section

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Footnotes

  • Published Online First 9 September 2005

  • This work was supported by National Institutes of Health grants P30-HD02274, K23-NS45832 (MAP), and K24-HD46712 (IAG); the March of Dimes Endowment for Healthier Babies at Children’s Hospital in Seattle; and the Center for Neurogenetics and Neurotherapeutics, University of Washington

  • Competing interests: none declared

  • Ethics approval was provided under a protocol approved by the University of Washington Human Subject Division (#97-6328-B 07) and at Hacettepe University, Turkey. Approval to participate in these research studies was provided under a protocol of informed consent as outlined in the Methods section

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