Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation

J Med Genet. 2005 Jan;42(1):e2. doi: 10.1136/jmg.2003.017376.

Authors

N J Leonard¹, A L Krol, S Bleoo, M J Somerville

Affiliation

¹ Department of Medical Genetics, 8-53 Medical Sciences Building, University of Alberta Hospital, Edmonton, Alberta, Canada T6G 2H7. [email protected]

No abstract available

Publication types

Case Reports

MeSH terms

Base Sequence
Child
Connexin 26
Connexins / genetics*
DNA Primers
Female
Fingers*
Gene Dosage
Hearing Loss, Sensorineural / genetics*
Humans
Joint Diseases / genetics*
Keratoderma, Palmoplantar / genetics*
Mutation, Missense*

Substances

Connexins
DNA Primers
GJB2 protein, human
Connexin 26