Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

Br J Dermatol. 2016 Feb;174(2):452-3. doi: 10.1111/bjd.14047. Epub 2015 Nov 17.

Authors

E Rashidghamat¹, L Ozoemena², L Liu², J A McGrath¹, A E Martinez³, J E Mellerio^{1

3}

Affiliations

¹ St John's Institute of Dermatology, King's College London, London, U.K.
² Viapath, St Thomas' Hospital, London, U.K.
³ Department of Dermatology, Great Ormond Street for Children NHS Foundation Trust, London, U.K.

PMID: 26211931
DOI: 10.1111/bjd.14047

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Child
Child, Preschool
Epidermolysis Bullosa Simplex / genetics*
Humans
Male
Mutation / genetics*
Pedigree
Siblings

Substances

Adaptor Proteins, Signal Transducing
EXPH5 protein, human

Supplementary concepts

Epidermolysis Bullosa Simplex, Autosomal Recessive