Genetic Conditions > Meesmann corneal dystrophy >

References

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

Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000 Jan;70(1):41-9. PubMed citation
Ehlers N, Hjortdal J, Nielsen K, Thiel HJ, Ørntoft T. Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family. Acta Ophthalmol. 2008 Feb;86(1):40-4. Epub 2007 Nov 6. Review. PubMed citation
Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997 Jun;16(2):184-7. 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
Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997 Dec;61(6):1268-75. PubMed citation
Smith F. The molecular genetics of keratin disorders. Am J Clin Dermatol. 2003;4(5):347-64. Review. PubMed citation
Szaflik JP, Ołdak M, Maksym RB, Kamińska A, Pollak A, Udziela M, Płoski R, Szaflik J. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. Mol Vis. 2008 Sep 15;14:1713-8. PubMed citation


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