| 1 | ACTB, ACTG1, BRWS1, BRWS2 |
| Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome. | |
| Eker HK, Derinkuyu BE, Unal S, Masliah-Planchon J, Drunat S, Verloes A. | |
| Eur J Med Genet 57(1):32-6. doi: 10.1016/j.ejmg.2013.10.005. Epub 2013 Nov 7. 2014 | |
| 2 | ACTB, ACTG1, BRWS1, BRWS2 |
| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. | |
| Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. | |
| Nat Genet 44(4):440-4, S1-2. doi: 10.1038/ng.1091. 2012 | |