Keratoderma, palmoplantar, with deafness

From Ganfyd

Revision as of 08:15, 7 August 2014 by Mlj (Talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to: navigation, search
Web Resources for Keratoderma, palmoplantar, with deafness


Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Wikipedia on Keratoderma, palmoplantar, with deafness (Less technical, ? quality control)

The GJB2 gene at 13q12.11 codes for the 226 amino acid pro-peptide of gap junction beta-2 protein. Mutations in the GJB2 gene are associated with: