Branchio-Oculo-Facial Syndrome (BOFS) Latest Advances

Hypoplastic vestibular aqueduct in congenital temporal bone anomalies - implications for subtype diagnosis of Meniere's disease.

Journal: AJNR. American journal of neuroradiology

Published: May 23, 2026

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

Journal: Acta oto-laryngologica

Published: March 17, 2026

SIX1 BOR variants have different effects on embryonic craniofacial gene expression and cartilage formation.

Journal: Development (Cambridge, England)

Published: December 06, 2025

Bilateral, non-syndromic second branchial cleft fistula in an 8-year-old child: a case report.

Journal: Journal of medical case reports

Published: September 29, 2025

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.

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.

Journal: Genes

Published: August 29, 2025

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.

Journal: BMC nephrology

Published: August 09, 2025

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.

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.

Journal: Journal of medical case reports

Published: May 28, 2025

Branchio-Oculo-Facial Syndrome (BOFS) Latest Advances

Find the Latest Research About Branchio-Oculo-Facial Syndrome (BOFS)

Hypoplastic vestibular aqueduct in congenital temporal bone anomalies - implications for subtype diagnosis of Meniere's disease.

Hypoplastic vestibular aqueduct in congenital temporal bone anomalies - implications for subtype diagnosis of Meniere's disease.

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

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

SIX1 BOR variants have different effects on embryonic craniofacial gene expression and cartilage formation.

SIX1 BOR variants have different effects on embryonic craniofacial gene expression and cartilage formation.

Bilateral, non-syndromic second branchial cleft fistula in an 8-year-old child: a case report.

Bilateral, non-syndromic second branchial cleft fistula in an 8-year-old child: a case report.

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.

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.

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.

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

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.

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.

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.

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.