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Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.
Nadelmann, Jennifer B; O'Neil, Erin C; Kim, Dale S; Juusola, Jane; Aleman, Tomas S.
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  • Nadelmann JB; Scheie Eye Institute at the Perelman Center for Advanced Medicine, Department of Ophthalmology, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
  • O'Neil EC; Scheie Eye Institute at the Perelman Center for Advanced Medicine, Department of Ophthalmology, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
  • Kim DS; Scheie Eye Institute at the Perelman Center for Advanced Medicine, Department of Ophthalmology, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
  • Juusola J; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA.
  • Aleman TS; Scheie Eye Institute at the Perelman Center for Advanced Medicine, Department of Ophthalmology, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA. aleman@pennmedicine.upenn.edu.
Doc Ophthalmol ; 143(3): 305-312, 2021 12.
Article en En | MEDLINE | ID: mdl-34259982
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Electrorretinografía Tipo de estudio: Diagnostic_studies Límite: Aged / Humans / Male Idioma: En Revista: Doc Ophthalmol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Electrorretinografía Tipo de estudio: Diagnostic_studies Límite: Aged / Humans / Male Idioma: En Revista: Doc Ophthalmol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos