A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Ocular coloboma (OC) is a defect in optic fissure closure and is a common cause of severe congenital visual impairment. Bilateral OC is primarily genetically determined and shows marked locus heterogeneity. Whole‐exome sequencing (WES) was used to analyze 12 trios (child affected with OC and both un...

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Publicado en:Hum Mutat
Autores principales: Rainger, Joe, Williamson, Kathleen A, Soares, Dinesh C, Truch, Julia, Kurian, Dominic, Gillessen‐Kaesbach, Gabriele, Seawright, Anne, Prendergast, James, Halachev, Mihail, Wheeler, Ann, McTeir, Lynn, Gill, Andrew C, van Heyningen, Veronica, Davey, Megan G, FitzPatrick, David R
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518294/
https://ncbi.nlm.nih.gov/pubmed/28493397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23246
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