Identification of a Novel CNV at 8q13 in a Family With Branchio‐Oto‐Renal Syndrome and Epilepsy-Reference-Cited by-同舟云学术

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Identification of a Novel CNV at 8q13 in a Family With Branchio‐Oto‐Renal Syndrome and Epilepsy

Published:2019-03-25 Issue:2 Volume:130 Page:526-532
ISSN:0023-852X
Container-title:The Laryngoscope
language:en
Short-container-title:The Laryngoscope

Author:

Men Meichao¹²^ORCID,Li Wu³,Chen Hongsheng³,Wu Jiayu²⁴,Feng Yong²³,Guo Hui²⁴,Li Jia‐Da²⁴

Affiliation:

1. Health Management Center, Xiangya HospitalCentral South University Changsha Hunan People's Republic of China

2. Hunan Key Laboratory of Medical GeneticsCentral South University Changsha Hunan People's Republic of China

3. Department of Otolaryngology, Xiangya HospitalCentral South University Changsha Hunan People's Republic of China

4. Hunan Key Laboratory of Animal Models for Human DiseasesCentral South University Changsha Hunan People's Republic of China

Publisher

Wiley

Subject

Otorhinolaryngology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/lary.27941

Reference32 articles.

1. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss

2. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

3. Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome

4. Branchio-oto-renal syndrome: The mutation spectrum inEYA1and its phenotypic consequences

5. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

Cited by 16 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. Hereditary Hearing Loss: A Systematic Review of Potential Treatments and Interventions;American Journal of Audiology;2023-12-04

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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