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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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2022-04-01
Series:	Frontiers in Aging Neuroscience
Assuntos:	norrie disease NDP gene deletion hearing loss endolymphatic hydrops
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fnagi.2022.771328/full
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