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Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
Atac, David; Koller, Samuel; Hanson, James V M; Feil, Silke; Tiwari, Amit; Bahr, Angela; Baehr, Luzy; Magyar, István; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang.
Afiliação
  • Atac D; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Koller S; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Hanson JVM; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich 8091, Switzerland.
  • Feil S; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Tiwari A; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Bahr A; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Baehr L; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Magyar I; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Kottke R; Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich 8032, Switzerland.
  • Gerth-Kahlert C; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich 8091, Switzerland.
  • Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren 8952, Switzerland.
Hum Mol Genet ; 29(1): 132-148, 2020 01 01.
Article em En | MEDLINE | ID: mdl-31696227

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Nervo Óptico / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Hipoplasia do Nervo Óptico Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Nervo Óptico / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Hipoplasia do Nervo Óptico Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça