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Article

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal of medical genetics - 1 Jan 2012

Le Quesne Stabej Polona, Saihan Zubin, Rangesh Nell, Steele-Stallard Heather B, Ambrose John, Coffey Alison, Emmerson Jenny, Haralambous Elene, Hughes Yasmin, Steel Karen P, Luxon Linda M, Webster Andrew R, Bitner-Glindzicz Maria

Abstract excerpt

BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I-III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22135276
DOI: 10.1136/jmedgenet-2011-100468
PMCID: PMC3678402

Genes

WHRN
CDH23
CLRN1
PCDH15

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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