EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families-Reference-Cited by-同舟云学术

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EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families

Published:2019-08 Issue: Volume:123 Page:141-145
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Chen Penghui,Liu Haijin,Lin Yun,Xu Jun,Zhu Weidong,Wu Hao,Yang Tao^ORCID

Funder

National Key R&D Program of China

National Science Foundation of China

Shanghai Municipal Science and Technology Commission

Shanghai Municipal Education Commission – Gaofeng Clinical Medicine

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes;Melnick;Clin. Genet.,1976

2. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss;Fraser;Am. J. Med. Genet.,1980

3. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences;Chang;Hum. Mutat.,2004

4. Eya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes;Zou;Development,2004

5. Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome;Wang;The Laryngoscope,2012

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms;BMC Medical Genomics;2024-04-16

2. Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction;Frontiers in Genetics;2024-01-08

3. 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

4. A novel mutation of the EYA1 gene in a branchio-otic syndrome child with secretory otitis media and bilateral vestibular weakness;2023-02-08

5. Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report;Medicine;2022-10-28

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