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

Direct and indirect regulation of SIX1+EYA transcriptional activity by PA2G4, MCRS1, and SOBP.

Journal: Tissue & cell

Published: February 03, 2026

SIX1 branchio-oto-renal syndrome 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-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.

Direct and indirect regulation of SIX1+EYA transcriptional activity by PA2G4, MCRS1, and SOBP.

Direct and indirect regulation of SIX1+EYA transcriptional activity by PA2G4, MCRS1, and SOBP.

SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation.

SIX1 branchio-oto-renal syndrome 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.