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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Aging Neuroscience
Subjects:
norrie disease
NDP
gene deletion
hearing loss
endolymphatic hydrops
Online Access:https://www.frontiersin.org/articles/10.3389/fnagi.2022.771328/full

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