Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

Br J Dermatol. 2017 Jul;177(1):262-264. doi: 10.1111/bjd.15053. Epub 2017 Jun 7.

Authors

E Kim^{1

2}, A Harris^{1

2}, V Hyland³, D F Murrell^{1

2}

Affiliations

¹ Faculty of Medicine, Department of Medicine, University of South Wales, Sydney, NSW, 2050, Australia.
² Department of Dermatology, St George Hospital, Sydney, NSW, 2217, Australia.
³ Molecular Genetics Laboratory, Department of Pathology, Royal Brisbane and Women's Hospital, Herston, Qld, 4006, Australia.

PMID: 27611893
DOI: 10.1111/bjd.15053

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Epidermolysis Bullosa Simplex / genetics*
Humans
Keratin-14 / genetics*
Keratin-5 / genetics*
Male
Mutation / genetics*
Pedigree

Substances

KRT14 protein, human
KRT5 protein, human
Keratin-14
Keratin-5