Genetic Conditions > epidermolysis bullosa simplex >

References

These sources were used to develop the Genetics Home Reference condition summary on epidermolysis bullosa simplex.

Charlesworth A, Chiaverini C, Chevrant-Breton J, DelRio M, Diociaiuti A, Dupuis RP, El Hachem M, Le Fiblec B, Sankari-Ho AM, Valhquist A, Wierzbicka E, Lacour JP, Meneguzzi G. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol. 2013 Apr;168(4):808-14. doi: 10.1111/bjd.12202. PubMed citation
Coulombe PA, Kerns ML, Fuchs E. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J Clin Invest. 2009 Jul;119(7):1784-93. doi: 10.1172/JCI38177. Epub 2009 Jul 1. Review. PubMed citation
Gene Review: Epidermolysis Bullosa Simplex
Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. 2012 Jan-Feb;30(1):70-7. doi: 10.1016/j.clindermatol.2011.03.012. Review. PubMed citation
Irvine AD. Inherited defects in keratins. Clin Dermatol. 2005 Jan-Feb;23(1):6-14. Review. PubMed citation
Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp Dermatol. 2005 Apr;14(4):241-9. Review. PubMed citation
Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. J Invest Dermatol. 2005 Aug;125(2):239-43. PubMed citation
Rugg EL, Leigh IM. The keratins and their disorders. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):4-11. Review. PubMed citation
Sprecher E. Epidermolysis bullosa simplex. Dermatol Clin. 2010 Jan;28(1):23-32. doi: 10.1016/j.det.2009.10.003. Review. PubMed citation


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