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Article

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.

Ophthalmic genetics - 1 Aug 2018

Zhang Nian, Wang Juan, Liu Shuting, Liu Mugen, Jiang Fagang

Abstract excerpt

BACKGROUND: To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. MATERIALS AND METHODS: Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used...

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Source

Identifiers

PMID: 29883260
DOI: 10.1080/13816810.2018.1479430

Genes

ADGRV1

Variants

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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