Evidence map›Paper›PMID 40650035›Full record

ArticleInternational journal of molecular sciences2025

Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.

Bayasgalan Gombojav, Jargalkhuu Erdenechuluun, Tserendulam Batsaikhan, Narandalai Danshiitsoodol, Zaya Makhbal, Maralgoo Jargalmaa, Tuvshinbayar Jargalkhuu, Yue-Sheng Lu, Pei-Hsuan Lin, Jacob Shu-Jui Hsu and 2 more

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In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. A novel frameshift variant ofFrontiers in genetics · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Bayasgalan GombojavDepartment of Epidemiology and Biostatistics, School of Public Health, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia.
Jargalkhuu ErdenechuluunDepartment of Otolaryngology, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14170, Mongolia.
Tserendulam BatsaikhanThe EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia.
Narandalai DanshiitsoodolDepartment of Probiotic Sciences for Preventive Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 7348551, Japan.ORCID 0000-0002-9524-3667
Zaya MakhbalThe EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia.
Maralgoo JargalmaaThe EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia.
Tuvshinbayar JargalkhuuThe EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia.ORCID 0009-0007-4954-9642
Yue-Sheng LuDepartment of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan.
Pei-Hsuan LinDepartment of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan.
Jacob Shu-Jui HsuGraduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei 100233, Taiwan.ORCID 0000-0001-7358-5343
Cheng-Yu TsaiDepartment of Otolaryngology, National Taiwan University College of Medicine, Taipei 100225, Taiwan.ORCID 0000-0001-6150-4577
Chen-Chi WuDepartment of Otolaryngology, National Taiwan University Hospital, Taipei 100225, Taiwan.ORCID 0000-0002-5047-2204

Funding

Hsinchu Science Park Bureau B113007Mongolian Foundation for Sciences and Technology TWN2020/002National Health Research Institutes (Taiwan) NHRI-EX113-11311PINational Science and Technology Council (Taiwan) NSTC 110-2923-B-002-001-MY3
6 · The paper itself

Abstract

Waardenburg syndrome (WS) is a rare genetic disorder that affects both hearing and pigmentation. The wide divergence of WS poses significant diagnostic and management challenges. This study investigated type 4 WS within an underrepresented Mongolian population. Whole-exome sequencing revealed that two unique heterozygous variants were identified in the

Indexed as

SOXE Transcription FactorsWaardenburg SyndromeChildChild, PreschoolExome SequencingFemaleHearing Loss, SensorineuralHirschsprung DiseaseHumansMaleMongoliaMutationPhenotypeSOX10 protein, humanSOXE Transcription Factorsde novo variantHirschsprung’s diseaseMongolian populationsensorineural hearing lossSOX10 variantWaardenburg syndrome

Identifiers

PMID40650035
PMCPMC12250201

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.