Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP

Norrie disease (ND; OMIM 310600), a rare X-linked recessive genetic disorder, is characterized by congenital blindness and occasionally, sensorineural hearing loss, and developmental delay. The congenital blindness of ND patients is almost untreatable; thus, hearing is particularly important for the...

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Detalles Bibliográficos
Autores principales: Gong, Yuerong, Liu, Zhang, Zhang, Xiaolin, Shen, Shuang, Xu, Qijun, Zhao, Hongchun, Shang, Jing, Li, Weiguo, Wang, Yanfei, Chen, Jun, Liu, Xiuzhen, Zheng, Qing Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Aging Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9062296/
https://www.ncbi.nlm.nih.gov/pubmed/35517050
http://dx.doi.org/10.3389/fnagi.2022.771328

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