Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type.[1] Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.[2]
| Pure hair-nail type ectodermal dysplasia | |
|---|---|
| Other names | Hair-nail ectodermal dysplasia |
See also
editReferences
edit- ^ Naeem, M; Wajid, M; Lee, K; Leal, S. M; Ahmad, W (2005). "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type". Journal of Medical Genetics. 43 (3): 274–279. doi:10.1136/jmg.2005.033381. PMC 2563238. PMID 16525032.
- ^ "Ectodermal dysplasia, pure hair-nail type". Gfmer.ch. 2009-12-26. Archived from the original on 2011-02-27. Retrieved 2010-01-20.
External links
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