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Article

Usher syndrome type III can mimic other types of Usher syndrome.

The Annals of otology, rhinology, and laryngology - 1 Jun 2003

Pennings Ronald J E, Fields Randall R, Huygen Patrick L M, Deutman August F, Kimberling William J, Cremers Cor W R J

Abstract excerpt

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12834121
DOI: 10.1177/000348940311200608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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