A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue: Gene Corner
Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
Irvine AD, McLean WHI. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 1999 140 : 815 828.
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa
Fine JD, Eady RAJ, Bauer EA et al. Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000 42 : 1051 1066.
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14
Harel A, Bergman R, Indelman M, Sprecher E. Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14. J Invest Dermatol 2006 126 : 1654 1657.
Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex
Has C, Chang YR, Volz A et al. Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex. J Invest Dermatol 2006 126 : 1912 1914.
Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients
Moog U, De Die-Smulders CE, Scheffer H et al. Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet 1999 86 : 376 379.
The classification of inherited epidermolysis bullosa (EB): Report of the third international consensus meeting on diagnosis and classification of EB
Fine JD, Eady RA, Bauer EA et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 2008 58 : 931 950.