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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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Furkejuvvon:
Váldodahkkit: Yuerong Gong, Zhang Liu, Xiaolin Zhang, Shuang Shen, Qijun Xu, Hongchun Zhao, Jing Shang, Weiguo Li, Yanfei Wang, Jun Chen, Xiuzhen Liu, Qing Yin Zheng
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Frontiers Media S.A. 2022-04-01
Ráidu:Frontiers in Aging Neuroscience
Fáttát:
norrie disease
NDP
gene deletion
hearing loss
endolymphatic hydrops
Liŋkkat:https://www.frontiersin.org/articles/10.3389/fnagi.2022.771328/full
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