Novel partial duplication ofEYA1causes branchiootic syndrome in a large Brazilian family-Reference-Cited by-同舟云学术

Novel partial duplication ofEYA1causes branchiootic syndrome in a large Brazilian family

Published:2015-04-30 Issue:9 Volume:54 Page:593-598
ISSN:1499-2027
Container-title:International Journal of Audiology
language:en
Short-container-title:International Journal of Audiology

Author:

Dantas Vitor G.L.,Freitas Erika L.,Della-Rosa Valter A.,Lezirovitz Karina,de Moraes Ana Maria S.M.,Ramos Silvia B.,Oiticica Jeanne,Alves Leandro U.,Pearson Peter L.,Rosenberg Carla,Mingroni-Netto Regina C.

Publisher

Informa UK Limited

Subject

Speech and Hearing,Linguistics and Language,Language and Linguistics

Link

http://www.tandfonline.com/doi/pdf/10.3109/14992027.2015.1030511

Reference30 articles.

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

2. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

3. Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome

5. Phenotypic manifestations of branchiootorenal syndrome

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1. 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

2. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17

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

4. Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family;International Journal of Pediatric Otorhinolaryngology;2020-11

5. Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance;American Journal of Medical Genetics Part A;2020-10-24