Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations. Genetic diagnosis is challenging due to marked genetic heterogeneity. In...

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Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: Ma, Alan S., Grigg, John R., Ho, Gladys, Prokudin, Ivan, Farnsworth, Elizabeth, Holman, Katherine, Cheng, Anson, Billson, Frank A., Martin, Frank, Fraser, Clare, Mowat, David, Smith, James, Christodoulou, John, Flaherty, Maree, Bennetts, Bruce, Jamieson, Robyn V.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2016
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Research Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4787201/
https://ncbi.nlm.nih.gov/pubmed/26694549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22948
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