Branchiootorenal Syndrome Latest Advances

Find the Latest Research About Branchiootorenal Syndrome

Last Updated: 04/28/2026

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Found 377 publications

Hearing characteristics of Branchio-oto-renal syndrome in Japan.

Hearing characteristics of Branchio-oto-renal syndrome in Japan.

Journal: Acta oto-laryngologica
Published: March 17, 2026

Complete bilateral second branchial cleft fistula in an adolescent: a rare case report with literature review.

Complete bilateral second branchial cleft fistula in an adolescent: a rare case report with literature review.

Journal: Annals of medicine and surgery (2012)
Published: September 13, 2025

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome.

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome.

Journal: BMC medical genomics
Published: September 03, 2025

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

Journal: Genes
Published: August 29, 2025

Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes

Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes

Journal: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
Published: August 24, 2025

From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.

From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.

Journal: BMC nephrology
Published: August 09, 2025

Recurrent abdominal pain as a leading symptom for branchio-oto-renal syndrome: a case report.

Recurrent abdominal pain as a leading symptom for branchio-oto-renal syndrome: a case report.

Journal: Journal of medical case reports
Published: June 11, 2025

The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.

The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.

Journal: Molecular genetics and genomics : MGG
Published: June 02, 2025

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.

Journal: Journal of medical case reports
Published: May 28, 2025

Clinical characteristics of patients with SALL1-related disorder.

Clinical characteristics of patients with SALL1-related disorder.

Journal: Pediatric nephrology (Berlin, Germany)
Published: April 25, 2025

Analysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.

Analysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.

Journal: Development (Cambridge, England)
Published: March 12, 2025

Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.

Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.

Journal: Journal of otology
Published: December 30, 2024
Showing 1-12 of 377

Last Updated: 04/28/2026