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

详细信息    查看全文

• 作者：Olivier Abbo ; Eric Bieth ; Quentin Ballouhey ; Frederic Vaysse ; Walter Just ; Philippe Galinier
• 关键词：Branchi-ocilo-facial syndrome ; Phenotype ; TFAPA2
• 刊名：Journal of Plastic, Reconstructive Aesthetic Surgery
• 出版年：2012
• 出版时间：November, 2012
• 年：2012
• 卷：65
• 期：11
• 页码：1573-1575
• 全文大小：255 K

文摘

| Figures/TablesFigures/Tables | ReferencesReferences

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.