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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Al-Khuzaei, Saoud; Hudspith, Karl A Z; Broadgate, Suzanne; Shanks, Morag E; Clouston, Penny; Németh, Andrea H; Halford, Stephanie; Downes, Susan M.
Affiliation
  • Al-Khuzaei S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Hudspith KAZ; Oxford Eye Hospital, John Radcliffe Hospital, Headley Way, Oxford, OX9 3DU, UK.
  • Broadgate S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Shanks ME; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Clouston P; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Németh AH; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Halford S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Downes SM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
BMC Ophthalmol ; 21(1): 168, 2021 Apr 09.
Article in En | MEDLINE | ID: mdl-33836713
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Dystrophies / Macular Degeneration Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans Language: En Journal: BMC Ophthalmol Journal subject: OFTALMOLOGIA Year: 2021 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Dystrophies / Macular Degeneration Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans Language: En Journal: BMC Ophthalmol Journal subject: OFTALMOLOGIA Year: 2021 Type: Article Affiliation country: United kingdom