Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.


BACKGROUND Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. OBJECTIVES To define the GJB2 mutations in three Japanese patients with KID syndrome. METHODS Genomic DNA was extracted from peripheral blood and used to amplify the GJB2… (More)


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