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A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

Anterior segment dysgenesis (ASD) is a spectrum of disorders that affect the anterior ocular chamber. Clinical studies on a Newfoundland family over the past 30 years show that 11 relatives have a variable ocular phenotype ranging from microcornea to Peters anomaly, segregating as an autosomal domin...

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Detalhes bibliográficos
Main Authors: Doucette, Lance, Green, Jane, Fernandez, Bridget, Johnson, Gordon J, Parfrey, Patrick, Young, Terry-Lynn
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062009/
https://ncbi.nlm.nih.gov/pubmed/21150893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.210
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