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Article

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Human genetics - 1 Apr 2007

Ebermann Inga, Scholl Hendrik P N, Charbel Issa Peter, Becirovic Elvir, Lamprecht Jürgen, Jurklies Bernhard, Millán José M, Aller Elena, Mitter Diana, Bolz Hanno

Abstract excerpt

Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP). The seven proteins that have been identified for Usher syndrome type 1 (USH1) and type 2 (USH2) may interact in a large protein complex. In order to identify novel USH genes, we followed a candidate strategy, assuming that...

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Identifiers

PMID: 17171570
DOI: 10.1007/s00439-006-0304-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.PMID 17171570Read ↗

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