Rikkert L Snoeckx et al.
American journal of human genetics, 77(6), 945-957 (2005-12-29)
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are