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Article

Genetic heterogeneity of Usher syndrome type II in a Dutch population.

Journal of medical genetics - 1 Sept 1996

Pieke-Dahl S, van Aarem A, Dobin A, Cremers C W, Kimberling W J

Abstract excerpt

The Usher syndromes are a group of autosomal recessive disorders characterised by retinitis pigmentosa (RP) with congenital, stable (non-progressive) sensorineural hearing loss. Profound deafness, RP, and no vestibular responses are features of Usher type I, whereas moderate to severe hearing loss and RP with normal vestibular function describe Usher type II. The gene responsible for most cases of Usher II,...

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Identifiers

PMID: 8880575
DOI: 10.1136/jmg.33.9.753
PMCID: PMC1050729

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Source receipt: pubmed, retrieved 7 Sept 2026.

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