Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel compound heterozygous variant of MYO7A in Usher syndrome type 1.

Experimental eye research - 1 Oct 2024

Cao Wenchao, Kuang Longhao, Gan Run, Huang Tao, Yan Xiaohe

Abstract excerpt

Usher syndrome (USH) is a recessive genetic disorder manifested by congenital sensorineural hearing loss and progressive retinitis pigmentosa, which leads to audiovisual impairment. We report a patient with Usher syndrome type 1 with new compound heterozygous MYO7A variants. A total of four members from the USH family were included. Medical history and retinal examinations were taken and genomic DNA from...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Electroretinography
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myosin VIIa

Share to Pedigree

Share to Tomography, Optical Coherence

Share to Usher Syndromes

Share to Visual Fields

Source

Identifiers

PMID: 39151776
DOI: 10.1016/j.exer.2024.110047

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel compound heterozygous variant of MYO7A in Usher syndrome type 1.PMID 39151776Read ↗

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.Semantic proximity Read ↗

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.Semantic proximity Read ↗

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report.Semantic proximity Read ↗

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.Semantic proximity Read ↗

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.Semantic proximity Read ↗

[Genetics of Usher syndrome].Semantic proximity Read ↗

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.Semantic proximity Read ↗

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.Semantic proximity Read ↗

[Clinical phenotype and genotype analysis of the family with the Usher syndrome].Semantic proximity Read ↗

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.