Case report| Volume 65, ISSUE 11, P1573-1575, November 2012

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

Published:April 26, 2012DOI:


      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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