Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22537416.
- Also identified by DOI 10.1016/j.bjps.2012.03.045.
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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.
Medical subject headings
- Branchio-Oto-Renal Syndrome
- Transcription Factor AP-2