
R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma
Keywords: Cx26, connexin26; HL, hearing loss; KID, keratitis–ichthyosis–deafness; PPK, palmoplantar keratoderma; HGVS, human genome variation society; PTA, pure tone audiometry; ABR, auditory brainstem response; CT, temporal computerized tomography; CL, cytoplasmic