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Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Jurgens, Julie A; Barry, Brenda J; Lemire, Gabrielle; Chan, Wai-Man; Whitman, Mary C; Shaaban, Sherin; Robson, Caroline D; MacKinnon, Sarah; England, Eleina M; McMillan, Hugh J; Kelly, Christopher; Pratt, Brandon M; O'Donnell-Luria, Anne; MacArthur, Daniel G; Boycott, Kym M; Hunter, David G; Engle, Elizabeth C.
Afiliación
  • Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Lemire G; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • Chan WM; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Whitman MC; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Shaaban S; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Robson CD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • MacKinnon S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • England EM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • McMillan HJ; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • Kelly C; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Pratt BM; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • O'Donnell-Luria A; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.
  • MacArthur DG; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Boycott KM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
  • Hunter DG; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Engle EC; Department of Neurology, Harvard Medical School, Boston, MA, USA.
Eur J Hum Genet ; 29(5): 816-826, 2021 05.
Article en En | MEDLINE | ID: mdl-33649541
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Fibrosis / Oftalmoplejía / Malformaciones del Desarrollo Cortical Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Fibrosis / Oftalmoplejía / Malformaciones del Desarrollo Cortical Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido