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Article

A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.

Journal of cellular and molecular medicine - 1 Jul 2020

Fu Jiewen, Shen Shiyi, Cheng Jingliang, Lv Hongbin, Fu Junjiang

Abstract excerpt

Usher syndrome encompasses a group of genetically and clinically heterogeneous autosomal recessive disorders with hearing deficiencies and retinitis pigmentosa. The mechanisms underlying the Usher syndrome are highly variable. In the present study, a Chinese family with Usher syndrome was recruited. Whole exome sequencing (WES), Sanger sequencing, homozygosity mapping, short tandem repeat (STR) analysis and...

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Identifiers

PMID: 32449591
DOI: 10.1111/jcmm.15405
PMCID: PMC7348175

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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.

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