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Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Thomas ParzefallAlexandra FrohneMartin KoenighoferAndreas KirchnawyBerthold StreubelChristian SchoeferWolfgang GstoettnerKlemens FreiTrevor Lucas
Published in: Wiener klinische Wochenschrift (2017)
Exome sequencing successfully resolved the genetic diagnosis in a family suffering from autosomal dominant hearing impairment and allowed prediction of purported auditory outcome after cochlear implantation in an index patient. Personalized treatment approaches based on the molecular mechanisms of disease may become increasingly important in the future.
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