title: 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.
authors.affiliation: Surgical Department of Children's Hospital of Toulouse, 330, Avenue de Grande Bretagne, TSA 70034, 31059 Toulouse Cedex 9, France. olivier.abbo@gmail.com
authors.forename: Olivier
authors.initials: O
authors.lastname: Abbo
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Quentin
authors.initials: Q
authors.lastname: Ballouhey
authors.forename: Frederic
authors.initials: F
authors.lastname: Vaysse
authors.forename: Walter
authors.initials: W
authors.lastname: Just
authors.forename: Philippe
authors.initials: P
authors.lastname: Galinier
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics* / Q000601:surgery; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D050656:Transcription Factor AP-2 / Q000235:genetics*
chemical_list: D050656:Transcription Factor AP-2