Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and renal anomalies. Mutations in EYA1 are known to cause BOR. More recently, mutations in SIX1, which interacts with EYA1, were identified as a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hoskins, Bethan E., Cramer, Carl H., Silvius, Derek, Zou, Dan, Raymond, Richard M., Orten, Dana J., Kimberling, William J., Smith, Richard J. H., Weil, Dominique, Petit, Christine, Otto, Edgar A., Xu, Pin-Xian, Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2007
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852719/
https://ncbi.nlm.nih.gov/pubmed/17357085
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados