Keratitis-ichthyosis-deafness syndrome

From Ganfyd

Jump to: navigation, search
Web Resources for Keratitis-ichthyosis-deafness syndrome


Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Wikipedia on Keratitis-ichthyosis-deafness syndrome (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:

Personal tools