Branchio-oculo-facial syndrome

Lin AE et al. (1995) Further delineation of the branchio-oculo-facial syndrome.

Reiber J et al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.

Stoetzel C et al. (2009) Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

Demirci H et al. (2005) New ophthalmic manifestations of branchio-oculo-facial syndrome.

None (2001) Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome.

Davies AF et al. (1999) Delineation of two distinct 6p deletion syndromes.

Bennaceur S et al. (1998) Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus.

Richardson E et al. (1996) Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?

McCool M et al. (1994) Branchio-oculo-facial syndrome: broadening the spectrum.

Lee WK et al. (1982) Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

Hall BD et al. (1983) Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.

Fujimoto A et al. (1987) New autosomal dominant branchio-oculo-facial syndrome.

Legius E et al. (1990) Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.

Lin AE et al. (1992) Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.

Mazzone D et al. (1992) Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.

Schmerler S et al. (1992) Long-term evaluation of a child with the branchio-oculo-facial syndrome.

Reiber J et al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

Gestri G et al. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Tekin M et al. (2009) A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

Milunsky JM et al. (2008) TFAP2A mutations result in branchio-oculo-facial syndrome.

Lin AE et al. (2000) Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

Fielding DW et al. (1992) Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

OMIM.ORG article

Orphanet article

Wikipedia article