Branchio-oto-renal syndrome
Definition:
References:
-
[1]. B Dallapiccola, et al. Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. J Med Genet. 1995 Oct;32(10):816-8. [Content Brief]
[2]. Bethan E Hoskins, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 Apr;80(4):800-4. [Content Brief]
[3]. Kirsten Marie Sanggaard, et al. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007 Nov;15(11):1121-31. [Content Brief]
[4]. Rainer G Ruf, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. [Content Brief]
[5]. S Rickard, et al. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet. 2001 May;108(5):398-403. [Content Brief]
Molarity Calculator
Dilution Calculator
