Article
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
International journal of pediatric otorhinolaryngology - 1 Feb 2008
Alasti Fatemeh, Sanati Mohammad Hossein, Behrouzifard Amir Hossein, Sadeghi Abdorrahim, de Brouwer Arjan P M, Kremer Hannie, Smith Richard J H, Van Camp Guy
Abstract excerpt
Mutations in the TECTA gene result in sensorineural non-syndromic hearing impairment. TECTA-related deafness can be inherited autosomal dominantly (designated as DFNA8/12) or autosomal recessively (as DFNB21). The alpha-tectorin protein, which is encoded by the TECTA gene, is one of the major com...
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