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Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.

Abstract
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.
AuthorsOlivier Abbo, Eric Bieth, Quentin Ballouhey, Frederic Vaysse, Walter Just, Philippe Galinier
JournalJournal of plastic, reconstructive & aesthetic surgery : JPRAS (J Plast Reconstr Aesthet Surg) Vol. 65 Issue 11 Pg. 1573-5 (Nov 2012) ISSN: 1878-0539 [Electronic] Netherlands
PMID22537416 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
Chemical References
  • Transcription Factor AP-2
Topics
  • Branchio-Oto-Renal Syndrome (genetics, surgery)
  • Female
  • Humans
  • Infant, Newborn
  • Mutation, Missense
  • Transcription Factor AP-2 (genetics)

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