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

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

Molecular genetics & genomic medicine - 1 Dec 2022

Lee Chen-Yu, Lo Ming-Yu, Chen You-Mei, Lin Pei-Hsuan, Hsu Chuan-Jen, Chen Pei-Lung, Wu Chen-Chi, Hsu Jacob Shujui

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS. METHODS: A total of 24 patients from 21 Han-Taiwanese families were enrolled...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microphthalmia-Associated Transcription Factor

Share to Mutation

Share to PAX3 Transcription Factor

Share to Receptor, Endothelin B

Share to SOXE Transcription Factors

Share to Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 36331148
DOI: 10.1002/mgg3.2082
PMCID: PMC9747560

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

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.PMID 36331148Read ↗

Identification of eight novel variants across<i>PAX3, SOX10, EDNRB</i>and<i>MITF</i>genes in Waardenburg syndrome with next-generation sequencingSemantic proximity Read ↗

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

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

Review and update of mutations causing Waardenburg syndrome.Semantic proximity Read ↗

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.Semantic proximity Read ↗

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.Semantic proximity Read ↗

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.Semantic proximity Read ↗

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

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

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.Semantic proximity Read ↗

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.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 ↗

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