Discover Community Create You

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

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

International journal of pediatric otorhinolaryngology - 1 Nov 2017

Wang Xueling, Lin Xiao-Jiang, Tang Xiangrong, Chai Yong-Chuan, Yu De-Hong, Chen Dong-Ye, Wu Hao

Abstract excerpt

AIMS: The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). METHODS: Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Hirschsprung Disease

Share to Homozygote

Share to Pedigree

Share to Usher Syndromes

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 29106856
DOI: 10.1016/j.ijporl.2017.08.012

Genes

EDNRB

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.PMID 29106856Read ↗

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read ↗

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Semantic proximity Read ↗

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.Semantic proximity Read ↗

Novel mutations of the USH2A gene and clinical phenotypes in Chinese Usher syndrome familiesSemantic proximity Read ↗

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.Semantic proximity Read ↗

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

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.Semantic proximity Read ↗

Whole-exome sequencing revealed two novel mutations in Usher syndrome.Semantic proximity Read ↗

A Novel USH2A Variant in a Patient with Hearing Loss and Prenatal Diagnosis of a Familial Fetus: a Case Report and Literature ReviewSemantic proximity Read ↗

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Semantic proximity Read ↗

Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case reportSemantic proximity Read ↗

The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.Semantic proximity Read ↗

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