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Article

NDP-related retinopathies: clinical phenotype of female carriers.

The British journal of ophthalmology - 1 Aug 2023

Huang Li, Sun Limei, Li Xiaoyu, Li Songshan, Zhang Ting, Zhang Zhaotian, Ding Xiaoyan

Abstract excerpt

BACKGROUND/AIMS: Norrin cysteine knot growth factor (NDP) located on the X chromosome, was previously reported to cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which are blindness-causing ocular disorders, in males. In this study, we aimed to explore the clinical characteristics of female carriers with NDP mutations. METHODS: Twelve female carriers from 11 unrelated families with...

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Identifiers

PMID: 35361573
DOI: 10.1136/bjophthalmol-2021-320084
PMCID: PMC10359507

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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