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.
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Authors | Olivier Abbo, Eric Bieth, Quentin Ballouhey, Frederic Vaysse, Walter Just, Philippe Galinier |
Journal | Journal 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 |
PMID | 22537416
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved. |
Chemical References |
- Transcription Factor AP-2
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Topics |
- Branchio-Oto-Renal Syndrome
(genetics, surgery)
- Female
- Humans
- Infant, Newborn
- Mutation, Missense
- Transcription Factor AP-2
(genetics)
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