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

A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.

International journal of pediatric otorhinolaryngology - 1 Jun 2021

Niu Zhijie, Lai Yongjing, Tan Songhua, Tang Fen, Tang Xianglong, Su Yupei, Liu Lei, Xie Lihong, Fang Qin, Xie Mao, Tang Anzhou

Abstract excerpt

OBJECTIVE: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hearing loss. The aim of this study was to analyze the clinical features and investigate the genetic cause of WS2 in a small family from Guangxi Zhuang Autonomous region. METHODS: Whole-exome sequencing and mutational analysis were used to identify disease-causing...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Ear, Inner

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Color

Share to Mutation

Share to Pedigree

Share to SOXE Transcription Factors

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 33865100
DOI: 10.1016/j.ijporl.2021.110711

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.PMID 33865100Read ↗

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.Semantic proximity Read ↗

A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IVSemantic proximity Read ↗

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.Semantic proximity Read ↗

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.Semantic proximity Read ↗

Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.Semantic proximity Read ↗

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.Semantic proximity Read ↗

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.Semantic proximity Read ↗

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.Semantic proximity Read ↗

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.Semantic proximity Read ↗

Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.Semantic proximity Read ↗

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype AnalysisSemantic proximity Read ↗

Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.Semantic proximity Read ↗

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