Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

Developmental eye diseases, including cataract/microcornea, Peters anomaly and coloboma/microphthalmia/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye. All modes of Mendelian inheritance occur and many are sporadic cases, so prov...

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Main Authors: Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2014
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4060118/
https://ncbi.nlm.nih.gov/pubmed/24281366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.268
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