Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

INTRODUCTION: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of th...

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Detalhes bibliográficos
Publicado no:Int J Pediatr Otorhinolaryngol
Main Authors: Klingbeil, Kyle D., Greenland, Christopher M., Arslan, Selcuk, Paneque, Arianne Llamos, Gurkan, Hakan, Ulusal, Selma Demir, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5516569/
https://ncbi.nlm.nih.gov/pubmed/28583505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ijporl.2017.04.037
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