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Published in 2020 at "Australasian Journal of Dermatology"
DOI: 10.1111/ajd.13239
Abstract: 1. Fine JD, Bruckner-Tuderman L, Eady RA et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J. Am. Acad. Dermatol. 2014; 70: 1103–26. 2. Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic…
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Keywords:
epidermolysis;
bullosa simplex;
epidermolysis bullosa;
dermatol ... See more keywords
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Published in 2017 at "British Journal of Dermatology"
DOI: 10.1111/bjd.15053
Abstract: Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1. Keratin 5 and 14 dimerise to…
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Keywords:
digenic inheritance;
bullosa simplex;
epidermolysis bullosa;
krt5 krt14 ... See more keywords