A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly-Reference-Cited by-同舟云学术

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

Published:2010-12-08 Issue:3 Volume:19 Page:293-299
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Doucette Lance,Green Jane,Fernandez Bridget,Johnson Gordon J,Parfrey Patrick,Young Terry-Lynn

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010210.pdf

Reference34 articles.

1. Berker N, Alanay Y, Elgin U et al: A new autosomal dominant Peters’ anomaly phenotype expanding the anterior segment dysgenesis spectrum. Acta Ophthalmol 2009; 87: 52–57.

2. Dichtl A, Jonas JB, Naumann GO : Atypical Peters’ anomaly associated with partial trisomy 5p. Am J Ophthalmol 1995; 120: 541–542.

3. Stromland K : Visual impairment and ocular abnormalities in children with fetal alcohol syndrome. Addict Biol 2004; 9: 153–157; discussion 159–60.

4. Withers SJ, Gole GA, Summers KM : Autosomal dominant cataracts and Peters anomaly in a large Australian family. Clin Genet 1999; 55: 240–247.

5. Harissi-Dagher M, Colby K : Anterior segment dysgenesis: Peters anomaly and sclerocornea. Int Ophthalmol Clin 2008; 48: 35–42.

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