First Report of Bilateral External Auditory Canal Cochlin Aggregates (“Cochlinomas”) with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin

Pathogenic variants in COCH, encoding cochlin, cause DFNA9 deafness disorder with characteristic histopathologic findings of cochlin deposits in the inner and middle ears. Here, we present the first case of deafness associated with bilateral external auditory canal (EAC) cochlin deposits, previously...

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Detalhes bibliográficos
Publicado no:Head Neck Pathol
Main Authors: Basu, Atreyee, Boczek, Nicole J., Robertson, Nahid G., Nasr, Samih H., Jethanamest, Daniel, McPhail, Ellen D., Kurtin, Paul J., Dasari, Surendra, Butz, Malinda, Morton, Cynthia C., Highsmith, W. Edward, Zhou, Fang
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7413963/
https://ncbi.nlm.nih.gov/pubmed/31493294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12105-019-01073-7
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