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

The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.

International journal of pediatric otorhinolaryngology - 1 Mar 2020

Liu Qin, Cheng Jing, Lu Yu, Zhou Jia, Wang Li, Yang Changliang, Yang Guang, Yang Hui, Cao Jingyuan, Zhang Zhao, Sun Yi

Abstract excerpt

OBJECTIVE: Waardenburg Syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance and highly genetic heterogeneity. To date, mutations of PAX3, SOX10, MITF, EDNRB, EDN3 and SNAI2 have been implicated in the pathogenesis of WS. In this study, we aimed to identify pathogenic genes among WS families and to analyze the pathogenic relationship between genotypes and phenotypes. METHODS: In this...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Counseling
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microphthalmia-Associated Transcription Factor

Share to PAX3 Transcription Factor

Share to Receptor, Endothelin B

Share to Snail Family Transcription Factors

Share to SOXE Transcription Factors

Share to Waardenburg Syndrome

Source

Identifiers

PMID: 31812001
DOI: 10.1016/j.ijporl.2019.109806

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.PMID 31812001Read ↗

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

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 nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Semantic proximity Read ↗

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.Semantic proximity Read ↗

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

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.Semantic proximity Read ↗

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

[Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome].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 ↗

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 ↗

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.Semantic proximity Read ↗

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