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Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon, Sarah; Oystreck, Darren T; Andrews, Caroline; Chan, Wai-Man; Hunter, David G; Engle, Elizabeth C.
Afiliação
  • MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
  • Oystreck DT; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Division of Ophthalmology, Faculty of Health Sciences, University of Stellenbosch, Tygerberg, South Africa.
  • Andrews C; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland.
  • Chan WM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland.
  • Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts. Electronic address: david.hunter@childrens.harvard.edu.
  • Engle EC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; F. B. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts; Manton Center for Orphan Disease Research, Boston Children's
Ophthalmology ; 121(7): 1461-8, 2014 Jul.
Article em En | MEDLINE | ID: mdl-24612975

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Fibrose / Oftalmopatias Hereditárias / Transtornos da Motilidade Ocular / Síndrome de Möbius / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Ophthalmology Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Fibrose / Oftalmopatias Hereditárias / Transtornos da Motilidade Ocular / Síndrome de Möbius / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Ophthalmology Ano de publicação: 2014 Tipo de documento: Article