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[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

Nederlands tijdschrift voor geneeskunde - 7 Dec 2002

Pennings R J E, Kremer H, Deutman A F, Kimberling W J, Cremers C W R J

Abstract excerpt

Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disease can be classified into three clinical types (I, II and III), which have the...

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PMID: 12510399

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12510399-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].PMID 12510399Read ↗

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Review of Genotype-Phenotype Correlations in Usher Syndrome.Semantic proximity Read ↗

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[Clinical phenotype and genotype analysis of the family with the Usher syndrome].Semantic proximity Read ↗

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Semantic proximity Read ↗

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

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