Global InformationTerminal osseous dysplasia with pigmentary defects information
| Terminal osseous dysplasia with pigmentary defects | |
|---|---|
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| This condition is inherited in an X-linked dominant manner. | |
| Specialty | Dermatology |
Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules.[1]
It has been associated with FLNA.[2]
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 897. ISBN 978-1-4160-2999-1.
- ^ Sun Y, Almomani R, Aten E, et al. (July 2010). "Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene". Am. J. Hum. Genet. 87 (1): 146–53. doi:10.1016/j.ajhg.2010.06.008. PMC 2896768. PMID 20598277.