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See Latest ArticlesAudiological profiles and gjb2, gjb6 mutations
Audiological Medicine, 04/27/09
Berto A et al. - The 35delG is the most common mutation that the authors found, especially in profound hearing impairment. Mild-moderate HL was identified overall among NT/NT forms. The findings confirm the importance of newborn screening, and the evaluation of genetic mutations to define genotype/phenotype correlation and clinical or audiological features useful to early diagnosis and improvement of therapeutic protocols.
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