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References

These sources were used to develop the Genetics Home Reference gene summary on the LOR gene.

Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. Clin Genet. 2008 Jan;73(1):85-8. Epub 2007 Oct 22. PubMed citation
Elias PM, Williams ML, Crumrine D, Schmuth M. Inherited disorders of corneocyte proteins. Curr Probl Dermatol. 2010;39:98-131. doi: 10.1159/000321086. Epub 2010 Sep 14. Review. PubMed citation
Entrez Gene
Gedicke MM, Traupe H, Fischer B, Tinschert S, Hennies HC. Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 2006 Jan;154(1):167-71. Review. PubMed citation
Henry J, Toulza E, Hsu CY, Pellerin L, Balica S, Mazereeuw-Hautier J, Paul C, Serre G, Jonca N, Simon M. Update on the epidermal differentiation complex. Front Biosci. 2012 Jan 1;17:1517-32. Review. PubMed citation
Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet. 1996 May;13(1):70-7. PubMed citation
O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol. 2002 May;27(3):243-6. PubMed citation
OMIM: LORICRIN
Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, Moskowitz DG, Christiano AM, Feingold KR, Elias PM. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol. 2004 Apr;122(4):909-22. PubMed citation
Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231-56. Review. PubMed citation


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