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Article

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

American journal of human genetics - 1 Feb 2004

Weston Michael D, Luijendijk Mirjam W J, Humphrey Kurt D, Möller Claes, Kimberling William J

Abstract excerpt

Usher syndrome type II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes (USH2A, USH2B, and USH2C) and is classified phenotypically as congenital hearing loss and progressive retinitis pigmentosa. The VLGR1 (MASS1) gene in the 5q14.3-q21.1 USH...

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Identifiers

PMID: 14740321
DOI: 10.1086/381685
PMCID: PMC1181933

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14740321-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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