Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome

OBJECTIVE: The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26). STUDY DESIGN: The authors conducted correlative clinical, molecular genetic, and postmortem histopatho-logic analysis. METHODS: The study subject was a ma...

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Main Authors: Griffith, Andrew J., Yang, Yandan, Pryor, Shannon P., Park, Hong-Joon, Jabs, Ethylin Wang, Nadol, Joseph B., Russell, Laura J., Wasserman, Daniel I., Richard, Gabriele, Adams, Joe C., Merchant, Saumil N.
Format: Artigo
Language:Inglês
Published: 2006
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563154/
https://ncbi.nlm.nih.gov/pubmed/16885744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/01.mlg.0000224549.75161.ca
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