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X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

Incomplete partition type 3 (IP3) malformation deafness is a rare hereditary cause of congenital or rapid progressive hearing loss. The children present with a severe to profound mixed hearing loss and temporal bone imaging show a typical inner ear malformation classified as IP3. Cochlear implantati...

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Detalles Bibliográficos
Autores principales: Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8694264/
https://www.ncbi.nlm.nih.gov/pubmed/34133399
http://dx.doi.org/10.1097/AUD.0000000000001073