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Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome
BACKGROUND AND OBJECTIVES: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity. We present the strategy employed to determine the gene locus responsible for the syndrome. DESIGN AND SETTING: A retrospective study of blindness-scoliosis-arachnodactyl...
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| Gepubliceerd in: | Ann Saudi Med |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
King Faisal Specialist Hospital and Research Centre
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6074473/ https://ncbi.nlm.nih.gov/pubmed/26657231 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2015.462 |
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