SIX5
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and renal anomalies.
Pathology
germline mutations in branchio-oto-renal syndrome (BOR syndrome)
- Branchio-oto-renal syndrome (BOR syndrome) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and renal anomalies.
See also
SIXs
EYA1 (also causing BOR syndrome)
References
Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome. Am J Hum Genet. 2007 Apr;80(4):800-4. PMID: #173570851#