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Article

NDP gene mutations in 14 French families with Norrie disease.

Human mutation - 1 Dec 2003

Royer Ghislaine, Hanein Sylvain, Raclin Valérie, Gigarel Nadine, Rozet Jean-Michel, Munnich Arnold, Steffann Julie, Dufier Jean-Louis, Kaplan Josseline, Bonnefont Jean-Paul

Abstract excerpt

Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a...

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Source

Identifiers

PMID: 14635119
DOI: 10.1002/humu.9204

Genes

NDP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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