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Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
Park, Jong G; Tischfield, Max A; Nugent, Alicia A; Cheng, Long; Di Gioia, Silvio Alessandro; Chan, Wai-Man; Maconachie, Gail; Bosley, Thomas M; Summers, C Gail; Hunter, David G; Robson, Caroline D; Gottlob, Irene; Engle, Elizabeth C.
Afiliação
  • Park JG; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Duke Uni
  • Tischfield MA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
  • Nugent AA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA.
  • Cheng L; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Di Gioia SA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
  • Chan WM; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Maconachie G; Ulverscroft Eye Unit, University of Leicester, Leicester LE2 7LX, UK; Department of Neuroscience, Psychology, and Behavior, University of Leicester, Leicester LE2 7LX, UK.
  • Bosley TM; Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD 21287, USA.
  • Summers CG; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN 55455, USA; Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.
  • Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.
  • Robson CD; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Radiology, Harvard Medical School, Boston, MA 02115, USA.
  • Gottlob I; Ulverscroft Eye Unit, University of Leicester, Leicester LE2 7LX, UK; Department of Neuroscience, Psychology, and Behavior, University of Leicester, Leicester LE2 7LX, UK.
  • Engle EC; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program
Am J Hum Genet ; 98(6): 1220-1227, 2016 06 02.
Article em En | MEDLINE | ID: mdl-27181683
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome da Retração Ocular / Fator de Transcrição MafB / Perda Auditiva / Doenças do Labirinto / Músculos Oculomotores Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome da Retração Ocular / Fator de Transcrição MafB / Perda Auditiva / Doenças do Labirinto / Músculos Oculomotores Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article