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A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery

Incomplete partition type III (IP-III) is a relatively rare inner ear malformation that has been associated with a POU3F4 gene mutation. The IP-III anomaly is mainly characterized by incomplete separation of the modiolus of the cochlea from the internal auditory canal. We describe a 71-year-old woma...

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Detalles Bibliográficos
Autores principales: Tekin, Ahmet M., Matulic, Marco, Wuyts, Wim, Assadi, Masoud Zoka, Mertens, Griet, van Rompaey, Vincent, Li, Yongxin, van de Heyning, Paul, Topsakal, Vedat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143104/
https://www.ncbi.nlm.nih.gov/pubmed/33919129
http://dx.doi.org/10.3390/genes12050613