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Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger, Nadav; Hendler, Karen; Banin, Eyal; Hanany, Mor; Kimchi, Adva; Mechoulam, Hadas; Meiner, Vardiella; Parag, Yoav; Sharon, Dror; Macarov, Michal; Yahalom, Claudia.
Afiliación
  • Levinger N; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Hendler K; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Banin E; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Hanany M; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Kimchi A; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Mechoulam H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Meiner V; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Parag Y; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Sharon D; Department of Diagnostic Radiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Macarov M; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Yahalom C; Department of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
Eur J Ophthalmol ; 31(6): 3349-3354, 2021 Nov.
Article en En | MEDLINE | ID: mdl-33238767
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Desprendimiento de Retina / Colágeno Tipo VIII / Encefalocele Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Eur J Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2021 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Desprendimiento de Retina / Colágeno Tipo VIII / Encefalocele Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Eur J Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2021 Tipo del documento: Article