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Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome

White Sutton Syndrome is a rare autosomal dominant disorder resulting from a de novo mutation of Pogo Transposable Element Derived with Zinc Finger domain gene. The phenotype is characterized by a wide spectrum of cognitive dysfunction and developmental delays. Hearing loss is frequently mentioned a...

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Detalles Bibliográficos
Autores principales: Musumano, Lucia Belen, Fancello, Virginia, Negossi, Laura, Ballardini, Elisa, Bigoni, Stefania, Ciorba, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Academy of Otology and Neurotology and the Politzer Society 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331637/
https://www.ncbi.nlm.nih.gov/pubmed/37272646
http://dx.doi.org/10.5152/iao.2023.22877