Article
Genetics of congenital hearing impairment: a clinical approach.
International journal of audiology - 1 Sept 2008
Tranebaerg Lisbeth
Abstract excerpt
Hearing impairment (HI) is the most frequent sensory disorder, with a genetic etiology in >50% of all cases, due to mutations in >44 identified genes. Autosomal recessive inheritance explains the majority, with GJB2 (connexin 26) mutations accounting for 15-50% of paediatric HI. Delayed presentation of HI to 11-60 months in cases of biallelic GJB2 mutations is a concern, necessitating a good audiological...
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