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Article

Twenty years of audiology in a patient with Norrie disease.

International journal of pediatric otorhinolaryngology - 1 Nov 2008

Halpin Chris, Sims Katherine

Abstract excerpt

OBJECTIVE: To describe disease progression and treatment outcomes over a 20-year period (ages 5-25) in a young man with Norrie disease (occuloacousticocerebral dysplasia), ND; OMIM #310600. Affected individuals are born blind and develop progressive sensory loss with onset in adolescence. This disease is X-linked and has been associated with mutations of the NDP gene (Xp11.4). METHODS: The patient was followed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18817988
DOI: 10.1016/j.ijporl.2008.08.007

Genes

NDP

Provenance

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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