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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2007
Schlagworte:
Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852719/
https://ncbi.nlm.nih.gov/pubmed/17357085
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge