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

• Authors: N J Leonard, A L Krol, S Bleoo, M J Somerville
• Journal: Journal of medical genetics (J Med Genet) Vol. 42 Issue 1 Pg. e2 (Jan 2005) ISSN: 1468-6244 [Electronic] England
• PMID: 15635064 (Publication Type: Case Reports, Journal Article)

Chemical References

• Connexins
• DNA Primers
• GJB2 protein, human
• Connexin 26

Topics

• 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