ArticleKidney international reports2024
Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
Article in Kidney international reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report.Kidney medicine · 2026Article
- Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.CEN case reports · 2026Article
- Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report.Clinical, cosmetic and investigational dermatology · 2026Article
- Townes-Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family.Balkan journal of medical genetics : BJMG · 2025Article
- Clinical characteristics of patients with SALL1-related disorder.Pediatric nephrology (Berlin, Germany) · 2025Article
- Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.European journal of human genetics : EJHG · 2025Article
- Case Report: Wide spectrum ofFrontiers in pediatrics · 2025Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition associated with Methods: A retrospective analysis of the genetic data from a 385-gene panel identified cases with a pathogenic (P) or likely pathogenic (LP) variant in Results: Of 35,044 samples, P or LP variants in Conclusion: Traditionally, a molecular diagnosis was ascertained primarily in individuals presenting with cardinal features of TBS; therefore, individuals with mild or atypical presentations were often overlooked clinically. Our findings reveal that
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