Fuchs corneal dystrophy
Definition:
References:
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[1]. Ahmed Z Soliman, et al. Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4. JAMA Ophthalmol. 2015 Dec;133(12):1386-91. [Content Brief]
[2]. Eranga N Vithana, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008 Mar 1;17(5):656-66. [Content Brief]
[3]. Gordon K Klintworth, et al. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. [Content Brief]
[4]. Hussain Elhalis, et al. Fuchs endothelial corneal dystrophy. Ocul Surf. 2010 Oct;8(4):173-84. [Content Brief]
[5]. P Liskova, et al. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. Br J Ophthalmol. 2007 Dec;91(12):1717-8. [Content Brief]
[6]. S Amer Riazuddin, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet. 2010 Jan;86(1):45-53. [Content Brief]
[7]. S Amer Riazuddin, et al. Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. Am J Hum Genet. 2013 Oct 3;93(4):758-64. [Content Brief]
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