| 1 | FLNA, ODPF |
| Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. | |
| Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. | |
| Am J Hum Genet 87(1):146-53.PMID: 20598277 2010 | |
| 2 | ODPF |
| Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family. | |
| Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B. | |
| Am J Med Genet A 143(1):51-7. 2007 | |
| 3 | ODPF |
| Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. | |
| Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. | |
| Am J Hum Genet 66(4):1461-4. 2000 | |
| 4 | ODPF |
| A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization. | |
| Horii E, Sugiura Y, Nakamura R. | |
| Am J Med Genet 80(1):1-5. 1998 | |