Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene

Clin Exp Dermatol. 2023 Oct 25;48(11):1295-1297. doi: 10.1093/ced/llad238.

Authors

Henning Olbrich¹, Alrun Hotz², Judith Fischer², Iakov Shimanovich¹

Affiliations

¹ Department of Dermatology, University of Lübeck, Lübeck, Germany.
² Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

PMID: 37462267
DOI: 10.1093/ced/llad238

No abstract available

MeSH terms

Adaptor Proteins, Signal Transducing / genetics
Epidermolysis Bullosa Simplex* / genetics
Epidermolysis Bullosa* / genetics
Homozygote
Humans
Mutation

Substances

EXPH5 protein, human
Adaptor Proteins, Signal Transducing