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Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
Di Gioia, Silvio Alessandro; Shaaban, Sherin; Tüysüz, Beyhan; Elcioglu, Nursel H; Chan, Wai-Man; Robson, Caroline D; Ecklund, Kirsten; Gilette, Nicole M; Hamzaoglu, Azmi; Tayfun, Gulsen Akay; Traboulsi, Elias I; Engle, Elizabeth C.
Afiliación
  • 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; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
  • Shaaban S; 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.
  • Tüysüz B; Istanbul University, Cerrahpasa Medical School, Department of Pediatric Genetics, Istanbul, Turkey.
  • Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey; Eastern Mediterranean University Medical School, Cyprus, Mersin 10, Turkey.
  • Chan WM; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
  • Robson CD; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Radiology, Harvard Medical School, Boston, MA 02115, USA.
  • Ecklund K; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Radiology, Harvard Medical School, Boston, MA 02115, USA.
  • Gilette NM; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
  • Hamzaoglu A; Istanbul Spine Center at Florence Nightingale Hospital, Abide-i Hurriyet Cad. No:166, Sisli, 34381, Istanbul, Turkey.
  • Tayfun GA; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Traboulsi EI; Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
  • Engle EC; 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; Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA; Howa
Am J Hum Genet ; 103(1): 115-124, 2018 07 05.
Article en En | MEDLINE | ID: mdl-29887215
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Costillas / Columna Vertebral / Oftalmoplejía / Factor 5 Regulador Miogénico / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Costillas / Columna Vertebral / Oftalmoplejía / Factor 5 Regulador Miogénico / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos