Summary
Branchio-oculo-facial syndrome (BOFS) is a rare entity described during the last century
which has been recently linked to mutations of the gene encoding for the transcription
factor named ‘TFAPA2’. We report here a sporadic case of BOFS with a partial phenotype
caused by a de novo mutation of this gene and discuss recent genetic findings.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of Plastic, Reconstructive & Aesthetic SurgeryAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- The treacher collins-franceschetti syndrome.J Laryngol Otol. 1957; 71: 597-604
- New autosomal dominant branchio-oculo-facial syndrome.Am J Med Genet. 1987; 27: 943-951
- The branchio-oculo-facial syndrome.Cleft Palate Craniofac J. 1991; 28: 96-102
- Genotype-phenotype analysis of the branchio-oculo-facial syndrome.Am J Med Genet A. 2011; 155A: 22-32
- Further delineation of the branchio-oculo-facial syndrome.Am J Med Genet. 1995; 56: 42-59
- TFAP2A mutations result in branchio-oculo-facial syndrome.Am J Hum Genet. 2008; 82: 1171-1177
- Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.Mol Vis. 2010; 16: 813-818
- Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities.J Med Genet. 2002; 39: 71-73
Article info
Publication history
Published online: April 26, 2012
Accepted:
March 27,
2012
Received:
October 20,
2010
Identification
Copyright
© 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Inc. All rights reserved.
