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The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

Norrie disease is caused by mutation of the NDP gene, presenting as congenital blindness followed by later onset of hearing loss. Protecting patients from hearing loss is critical for maintaining their quality of life. This study aimed to understand the onset of pathology in cochlear structure and f...

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Detalles Bibliográficos
Autores principales: Bryant, Dale, Pauzuolyte, Valda, Ingham, Neil J., Patel, Aara, Pagarkar, Waheeda, Anderson, Lucy A., Smith, Katie E., Moulding, Dale A., Leong, Yeh C., Jafree, Daniyal J., Long, David A., Al-Yassin, Amina, Steel, Karen P., Jagger, Daniel J., Forge, Andrew, Berger, Wolfgang, Sowden, Jane C., Bitner-Glindzicz, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855802/
https://www.ncbi.nlm.nih.gov/pubmed/35132964
http://dx.doi.org/10.1172/jci.insight.148586