Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3-Reference-Cited by-同舟云学术

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

Published:2015-10-28 Issue:7 Volume:24 Page:985-991
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Liskova Petra,Evans Cerys J,Davidson Alice E,Zaliova Marketa,Dudakova Lubica,Trkova Marie,Stranecky Viktor,Carnt Nicole,Plagnol Vincent,Vincent Andrea L,Tuft Stephen J,Hardcastle Alison J

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015232.pdf

Reference31 articles.

1. Cibis GW, Krachmer JA, Phelps CD, Weingeist TA : The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol 1977; 95: 1529–1537.

2. Moroi SE, Gokhale PA, Schteingart MT et al: Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol 2003; 135: 461–470.

3. Jirsova K, Merjava S, Martincova R et al: Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients. Exp Eye Res 2007; 84: 680–686.

4. Merjava S, Malinova E, Liskova P et al: Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium. Histochem Cell Biol 2011; 136: 93–101.

5. Gwilliam R, Liskova P, Filipec M et al: Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci 2005; 46: 4480–4484.

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