Townes-Brocks Syndrome Latest Advances

Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 28, 2026

Townes-Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family.

Journal: Balkan journal of medical genetics : BJMG

Published: May 18, 2026

Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report.

Journal: Kidney medicine

Published: April 24, 2026

Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report.

Journal: Clinical, cosmetic and investigational dermatology

Published: February 13, 2026

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

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.

Journal: BMC pediatrics

Published: September 17, 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

Townes-Brocks Syndrome Latest Advances

Find the Latest Research About Townes-Brocks Syndrome

Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review

Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review

Townes-Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family.

Townes-Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family.

Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report.

Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report.

Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report.

Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Case Report: Wide spectrum of SALL1 variants-a rare cause of pediatric chronic kidney disease.

Case Report: Wide spectrum of SALL1 variants-a rare cause of pediatric chronic kidney disease.

Clinical characteristics of patients with SALL1-related disorder.

Clinical characteristics of patients with SALL1-related disorder.

Molecular mechanism, diagnosis, and treatment of VACTERL association.

Molecular mechanism, diagnosis, and treatment of VACTERL association.

Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.

Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.

Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.

Sall1 regulates microtubule acetylation in mesenchymal cells during mouse urethral development.

Sall1 regulates microtubule acetylation in mesenchymal cells during mouse urethral development.

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.