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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Vydáno v:Hum Mutat
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
Témata:
Research Articles
On-line přístup: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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