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Article

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Human mutation - 1 Mar 2002

von Brederlow Benigna, Bolz Hanno, Janecke Andreas, La O Cabrera Alicia, Rudolph Günther, Lorenz Birgit, Schwinger Eberhard, Gal Andreas

Abstract excerpt

Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment. Usher syndrome type 1 (USH1), with additional vestibular dysfunction, represents the most severe form and shows extensive allelic and non-allelic heterogeneity. At least six USH1 loci exist (USH1A-F), and four of the underlying genes have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11857743
DOI: 10.1002/humu.10049

Genes

CDH23

Provenance

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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