| 1 | ABPMS, BBRSAY, TWIST2 |
| Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. | |
| Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. | |
| Am J Hum Genet 97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. 2015 | |
| 2 | BBRSAY |
| Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. | |
| Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O. | |
| Am J Med Genet A 149A(10):2236-40. doi: 10.1002/ajmg.a.32993. 2009 | |
| 3 | BBRSAY |
| Autosomal dominant inheritance of Barber-Say syndrome. | |
| Dinulos MB, Pagon RA. | |
| Am J Med Genet 86(1):54-6. 1999 | |
| 4 | BBRSAY |
| Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. | |
| David A, Gordeeff A, Badoual J, Delaire J. | |
| Am J Med Genet 39(1):112-5. 1991 | |