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Article

Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.

The Annals of otology, rhinology, and laryngology - 1 Feb 1997

Marietta J, Walters K S, Burgess R, Ni L, Fukushima K, Moore K C, Hejtmancik J F, Smith R J

Abstract excerpt

Usher's syndrome type I is a heterogeneous group of diseases characterized by severe to profound sensorineural hearing loss, absent vestibular function, and progressive pigmentary retinopathy. Other identifying clinical features have not been documented. In this study, we examined olfactory acuity, plasma levels of polyunsaturated fatty acids and sarcosine, and cilia ultrastructure in a homogeneous cohort of...

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Identifiers

PMID: 9041816
DOI: 10.1177/000348949710600206

Genes

KCNC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.PMID 9041816Read ↗

Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.Semantic proximity Read ↗

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Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.Semantic proximity Read ↗

Genetic heterogeneity of Usher syndrome type II.Semantic proximity Read ↗

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.Semantic proximity Read ↗

Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.Semantic proximity Read ↗

Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).Semantic proximity Read ↗

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.Semantic proximity Read ↗

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Auditory Phenotype of Niemann-Pick Disease, Type C1Semantic proximity Read ↗

Association of Single-Nucleotide Polymorphisms in Sweet Taste Perception and Intake Genes with Primary Ciliary Dyskinesia and Its Clinical Phenotypes.Semantic proximity Read ↗

Usher syndrome type III can mimic other types of Usher syndrome.Semantic proximity Read ↗

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