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References

These sources were used to develop the Genetics Home Reference condition summary on lattice corneal dystrophy type I.

Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006 Jul;27(7):615-25. Review. PubMed citation
Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Review. PubMed citation
Liu Z, Wang YQ, Gong QH, Xie LX. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. Mol Vis. 2008 Jun 30;14:1234-9. PubMed citation
Munier FL, Korvatska E, Djemaī A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51. PubMed citation
Schmitt-Bernard CF, Chavanieu A, Derancourt J, Arnaud B, Demaille JG, Calas B, Argiles A. In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I. Biochem Biophys Res Commun. 2000 Jul 5;273(2):649-53. PubMed citation

Reviewed: April 2012

Published: May 13, 2013