Article
A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.
Ophthalmic genetics - 1 Aug 2020
Lin Meina, Lu Yongping, Sui Yu, Ni Xiang, Li Huan, Chen Xinren, Zhao Ning, Jiang Miao
Abstract excerpt
BACKGROUND: Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failure, and seizures. Norrie disease is caused by mutations in the Norrie disease pseudoglioma gene (NDP), which encodes the Norrin protein that plays a crucial...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.