| 1 | FFDD2, TWIST2 |
| Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation. | |
| Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. | |
| Clin Genet lin Genet. 2014 Nov 19. doi: 10.1111/cge.12539. [Epub ahead of print] 2014 | |
| 2 | FFDD2, FFDD3, TWIST2 |
| Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. | |
| Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. | |
| J Med Genet 48(10):716-20. doi: 10.1136/jmedgenet-2011-100251. 2011 | |