Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • I. Perrault, Laboratory of Genetics in Ophthalmology
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  • J. Halbritter, Boston Children's Hospital
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  • J. Porath, Boston Children's Hospital
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  • X. Gerard, Laboratory of Genetics in Ophthalmology
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  • D. Braun, Division of Nephrology, Boston Children's Hospital
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  • H. Gee, Boston Children's Hospital
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  • H. Fathy, Alexandria University
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  • S. Saunier, INSERM
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  • V. Cormier-Daire, Molecular and Physiopathological Bases of Osteochondrodysplasia
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  • S. Thomas, Embryology and Genetics of Human Malformation
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  • T. Attié-Bitach, Embryology and Genetics of Human Malformation
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  • N. Boddaert, Universite Paris 5
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  • M. Taschner, Department of Structural Cell Biology, Max Planck Institute of Biochemistry
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  • M. Schueler, Boston Children's Hospital
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  • E. Lorentzen
  • R. Lifton, Yale School of Medicine
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  • E. Otto, Departments of Pediatrics, University of Michigan, Ann Arbor, Michigan.
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  • P. Bastin, Institut Pasteur Paris
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  • J. Kaplan, Laboratory of Genetics in Ophthalmology
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  • F. Hildebrandt, Boston Children's Hospital
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  • J. M. Rozet, Laboratory of Genetics in Ophthalmology
Original languageEnglish
Article numberP7
JournalCilia
IssueSUPPLEMENT 1
DOIs
Publication statusPublished - 13 Jul 2015
Externally publishedYes

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ID: 175418679