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Last Updated: 10/31/2025
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Found 366 publications
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
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.
Journal: Pediatric nephrology (Berlin, Germany)
Published: April 25, 2025
Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.
Journal: Journal of otology
Published: December 30, 2024
IPSC-induced podocytes from a BORS patient with EYA1 gene mutation showed glucocorticoid-resistant and cytoskeletal rearrangement.
Journal: Cellular and molecular life sciences : CMLS
Published: December 06, 2024
Targets of the transcription factor Six1 identify previously unreported candidate deafness genes.
Journal: Development (Cambridge, England)
Published: November 18, 2024
Genetic analysis of a Chinese pedigree affected with Branchio-oculo-facial syndrome and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 01, 2024
Incoherent collective cell chemotaxis underlies organ dysmorphia in a model of branchio-oto-renal syndrome.
Journal: microPublication biology
Published: August 08, 2024
The Role of SIX-EYA Complex in Branchiootorenal Syndrome and Glioblastoma: A Case Report and Review of Literature.
Journal: Case reports in oncology
Published: July 23, 2024
A Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple Pre-auricular Skin Tags.
Journal: Cureus
Published: July 15, 2024
Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.
Journal: International journal of molecular sciences
Published: July 03, 2024
Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.
Journal: Prenatal diagnosis
Published: May 03, 2024
Last Updated: 10/31/2025