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Article

Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

International journal of molecular medicine - 1 Oct 2015

Zheng Sui-Lian, Zhang Hong-Liang, Lin Zhen-Lang, Kang Qian-Yan

Abstract excerpt

Usher syndrome (USH) is an autosomal recessive (AR) multi-sensory degenerative disorder leading to deaf-blindness. USH is clinically subdivided into three subclasses, and 10 genes have been identified thus far. Clinical and genetic heterogeneities in USH make a precise diagnosis difficult. A dominant‑like USH family in successive generations was identified, and the present study aimed to determine the genetic...

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Identifiers

PMID: 26310143
DOI: 10.3892/ijmm.2015.2322
PMCID: PMC4564089

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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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