Article
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
International journal of pediatric otorhinolaryngology - 1 Feb 2005
Santos Regie Lyn P, Aulchenko Yurii S, Huygen Patrick L M, van der Donk Kim P, de Wijs Ilse J, Kemperman Martijn H, Admiraal Ronald J C, Kremer Hannie, Hoefsloot Lies H, Cremers Cor W R J
Abstract excerpt
OBJECTIVE: Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common cause of recessive nonsyndromic hearing loss, the pattern of hearing impairment with these mutations remains inconsistent. Recently a deletion encompassing the GJB6 gene was identified and hypothesized to also contribute to hearing loss. We hereby describe the hearing impairment in Dutch patients with biallelic...
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