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A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all ph...

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Detalhes bibliográficos
Main Authors: Plantinga, Rutger F., de Brouwer, Arjan P.M., Huygen, Patrick L.M., Kunst, Henricus P.M., Kremer, Hannie, Cremers, Cor W.R.J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2504577/
https://ncbi.nlm.nih.gov/pubmed/16718611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10162-006-0033-z
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