A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus

JAMA Dermatol. 2019 May 1;155(5):633-635. doi: 10.1001/jamadermatol.2018.5852.

Authors

Young In Lee¹, Tae-Gyun Kim¹, Seung-Tae Lee², Si-Hyung Lee³, Min-Geol Lee¹

Affiliations

¹ Cutaneous Biology Research Institute, Department of Dermatology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
² Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
³ Department of Dermatology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.

PMID: 30916736
DOI: 10.1001/jamadermatol.2018.5852

No abstract available

Publication types

Case Reports

MeSH terms

Connexin 26
Connexins / genetics*
Darier Disease / diagnosis*
Darier Disease / genetics
Humans
Infant
Male
Mutation

Substances

Connexins
GJB2 protein, human
Connexin 26