A novel splice site mutation in theEYA1gene in a Korean family with branchio-oto (BO) syndrome
Author:
Publisher
Informa UK Limited
Subject
Otorhinolaryngology,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/00016480802342432
Reference20 articles.
1. Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes
2. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)
3. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss
4. Branchio-oto-renal syndrome: The mutation spectrum inEYA1and its phenotypic consequences
5. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
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1. A Novel <i>EYA1</i> Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application;Clinical and Experimental Otorhinolaryngology;2023-11-30
2. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17
3. Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome;Frontiers in Genetics;2021-11-15
4. Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis;Clinical Genetics;2021-03-21
5. EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families;International Journal of Pediatric Otorhinolaryngology;2019-08
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