Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma

Int J Dermatol. 2020 Dec;59(12):e454-e455. doi: 10.1111/ijd.15139. Epub 2020 Aug 17.

Authors

Mun W Lam¹, David Veitch², Pick N Woo¹

Affiliations

¹ Department of Dermatology, Northampton General Hospital, Northampton, UK.
² Dermatology NHS Treatment Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK.

PMID: 32808299
DOI: 10.1111/ijd.15139

No abstract available

Publication types

Letter

MeSH terms

Connexin 26
Connexins / genetics
Hearing Loss*
Hearing Loss, Sensorineural* / genetics
Humans
Keratoderma, Palmoplantar* / genetics
Mutation
Mutation, Missense
Pedigree

Substances

Connexins
GJB2 protein, human
Connexin 26