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Article

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

American journal of human genetics - 1 Sept 2002

Fields Randall R, Zhou Guimei, Huang Dali, Davis Jack R, Möller Claes, Jacobson Samuel G, Kimberling William J, Sumegi Janos

Abstract excerpt

Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the...

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Identifiers

PMID: 12145752
DOI: 10.1086/342098
PMCID: PMC449697

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12145752-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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