Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation

This paper aims to present a third world case of Non-Syndromic sensorineural hearing loss (NSHL) due to a novel missense variant in COL11A1 gene, defined as DFNA37 non-syndromic hearing loss. The clinical features of a 6-year-old boy affected by a bilateral moderate to severe down-sloping sensorineu...

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Bibliografiske detaljer
Udgivet i:J Int Adv Otol
Main Authors: Ciorba, Andrea, Corazzi, Virginia, Melegatti, Michela, Morgan, Anna, Pelliccione, Giulia, Girotto, Giorgia, Bigoni, Stefania
Format: Artigo
Sprog:Inglês
Udgivet: The European Academy of Otology and Neurotology 2021
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7901426/
https://ncbi.nlm.nih.gov/pubmed/33605226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/iao.2020.8179
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