Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4

J Dermatol. 2019 Feb;46(2):e61-e63. doi: 10.1111/1346-8138.14591. Epub 2018 Aug 6.

Authors

Kenji Yoshida¹, Mariko Sadamoto¹, Takashi Sasaki², Akiharu Kubo³, Akira Ishiko¹

Affiliations

¹ Dermatology, Toho University School of Medicine, Tokyo, Japan.
² Center for Supercentenarian Medical Research, Keio University School of Medicine, Tokyo, Japan.
³ Dermatology, Keio University School of Medicine, Tokyo, Japan.

PMID: 30079450
DOI: 10.1111/1346-8138.14591

No abstract available

Publication types

Case Reports
Letter

MeSH terms

DNA Mutational Analysis
Epidermolysis Bullosa, Junctional / diagnosis
Epidermolysis Bullosa, Junctional / genetics*
Epidermolysis Bullosa, Junctional / pathology
Female
Humans
Integrin beta4 / genetics*
Microscopy, Electron
Middle Aged
Mutation, Missense
Skin / pathology
Skin / ultrastructure

Substances

ITGB4 protein, human
Integrin beta4