| 1 | BOFS, TFAP2A
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| Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
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| Li H, Sheridan R, Williams T.
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| Hum Mol Genet 22(16):3195-206. doi: 10.1093/hmg/ddt173. Epub 2013 Apr 10.
2013
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| 2 | BOFS, TFAP2A
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| A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
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| Aliferis K, Stoetzel C, Pelletier V, Hellé S, Angioï-Duprez K, Vigneron J, Leheup B, Marion V, Dollfus H.
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| Ophthalmic Genet 32(4):250-5. Epub 2011 Jul 5.
2011
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| 3 | BOFS, TFAP2A
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| Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.
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| Thomeer HG, Crins TT, Kamsteeg EJ, Buijsman W, Cruysberg JR, Knoers NV, Cremers CW.
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| Ann Otol Rhinol Laryngol 119(12):806-14. Review.
2010
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| 4 | BOFS, TFAP2A
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| A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.
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| Tekin M, Sirmaci A, Yüksel-Konuk B, Fitoz S, Sennaroğlu L.
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| Am J Med Genet A 149A(3):427-30.
2009
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| 5 | BOFS, TFAP2A
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| Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
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| Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H.
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| Am J Med Genet A 149A(10):2141-6.PMID: 19764023 2009
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| 6 | TFAP2A, BOFS
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| TFAP2A mutations result in branchio-oculo-facial syndrome.
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| Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE.
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| Am J Hum Genet 82(5):1171-7. 2008
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| 7 | BOFS
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| Further delineation of the branchio-oculo-facial syndrome.
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| Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al.
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| Am J Med Genet 56(1):42-59. Review. 1995
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| 8 | BOFS
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| Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.
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| Legius E, Fryns JP, Van den Berghe H.
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| Clin Genet 37(5):347-50. 1990
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