Townes-Brocks Syndrome Latest Advances
Find the Latest Research About Townes-Brocks Syndrome
Last Updated: 02/24/2026
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Found 145 publications
Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.
Journal: CEN case reports
Published: August 09, 2025
Case Report: Wide spectrum of SALL1 variants-a rare cause of pediatric chronic kidney disease.
Journal: Frontiers in pediatrics
Published: June 18, 2025
Clinical characteristics of patients with SALL1-related disorder.
Journal: Pediatric nephrology (Berlin, Germany)
Published: April 25, 2025
Molecular mechanism, diagnosis, and treatment of VACTERL association.
Journal: Frontiers in pediatrics
Published: April 10, 2025
Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.
Journal: Orphanet journal of rare diseases
Published: November 14, 2024
Sall1 regulates microtubule acetylation in mesenchymal cells during mouse urethral development.
Journal: Cells & development
Published: August 05, 2024
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Journal: European journal of human genetics : EJHG
Published: July 13, 2024
A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.
Journal: Italian journal of pediatrics
Published: January 30, 2024
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.
Journal: Nephrology (Carlton, Vic.)
Published: December 14, 2023
Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
Journal: Kidney international reports
Published: November 09, 2023
Last Updated: 02/24/2026