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

[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Mar 2026

Liu Dingding, Li Ao, Yu Chunjue, Ding Xiaoqiong, Sun Feihu, Qian Xiaoyun, Gao Xia, Zhu Guangjie

Abstract excerpt

Objective:To detect the molecular etiology of a proband with Waardenburg syndrome type type Ⅳ（WS4） and their family members, explore the possible pathogenic mechanism of SOX10 gene mutation, analyze its incomplete penetrance combined with clinical phenotypes, and dicuss the potential molecular pathogenesis. Methods:Clinical data of the proband and their family members were collected. Peripheral blood genomic DNA...

Read the complete abstract on PubMed

Topics

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

Share to SOX10 gene
Share to Hirschsprung Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Penetrance

Share to Phenotype

Share to SOXE Transcription Factors

Share to Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 41668496
DOI: 10.13201/j.issn.2096-7993.2026.03.014
PMCID: PMC13368426

Genes

SOX10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].PMID 41668496Read ↗

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

[Analysis of genetic variation in patients with Waardenburg syndrome type Ⅱ by next generation sequencing].Semantic proximity Read ↗

[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].Semantic proximity Read ↗

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

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

SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.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 ↗

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 ↗

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

[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene].Semantic proximity Read ↗

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

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