ArticleJournal of medical genetics2024
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
Article in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Genotype-phenotype correlation-driven precision management in hereditary conductive and mixed hearing loss.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Article
- Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report.Clinical, cosmetic and investigational dermatology · 2026Article
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.European journal of human genetics : EJHG · 2025Article
- Clinical characteristics of patients with SALL1-related disorder.Pediatric nephrology (Berlin, Germany) · 2025Article
- SALL1 Is an Orchestrator of Uterine Receptivity in Part via Titration of Estrogen Signaling.Endocrinology · 2025Article
- Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.BMC medical genomics · 2025Review
- Case Report: Wide spectrum ofFrontiers in pediatrics · 2025Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTownes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics.
methodsWe screened
resultsWe identified five novel and two reported pathogenic/likely pathogenic (P/LP)
conclusionThis study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management.
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Registered trials
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.