Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations

Br J Dermatol. 2019 Sep;181(3):623-624. doi: 10.1111/bjd.17838. Epub 2019 May 12.

Authors

C Has¹, J Küsel², R Happle¹, H Steinke¹, K Technau-Hafsi¹, J Fischer²

Affiliations

¹ Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, Hauptstraße 7, 79104, Freiburg, Germany.
² Institute for Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, Hauptstraße 7, 79104, Freiburg, Germany.

PMID: 30816995
DOI: 10.1111/bjd.17838

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Biopsy
Carcinoma, Verrucous / diagnosis
Carcinoma, Verrucous / genetics*
Carcinoma, Verrucous / pathology
Connexin 26
Connexins / genetics*
DNA Mutational Analysis
Hearing Loss, Sensorineural / diagnosis
Hearing Loss, Sensorineural / genetics*
Humans
Male
Mosaicism
Nevus / diagnosis
Nevus / genetics*
Nevus / pathology
Porokeratosis / diagnosis
Porokeratosis / genetics*
Porokeratosis / pathology
Skin / pathology
Skin Neoplasms / diagnosis
Skin Neoplasms / genetics*
Skin Neoplasms / pathology
Syndrome
Young Adult

Substances

Connexins
GJB2 protein, human
Connexin 26

Supplementary concepts

Epidermal Nevus