Citations for
1FLNA, 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
2ODPF
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
3ODPF
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
4ODPF
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