Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

PURPOSE: In addition to environmental causes such as TORCH infection, trauma and drug or chemical exposure, childhood cataracts (CC) frequently have a genetic basis. They may be isolated or syndromic and have been associated with mutations in over 110 genes. We have recently demonstrated that next-g...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eye (Lond)
Asıl Yazarlar: Musleh, M, Hall, G, Lloyd, I C, Gillespie, R L, Waller, S, Douzgou, S, Clayton-Smith, J, Kehdi, E, Black, G C M, Ashworth, J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Clinical Study
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5023796/
https://ncbi.nlm.nih.gov/pubmed/27315345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2016.105
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