Pure hair-nail type ectodermal dysplasia
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]
See also
References
- ↑ http://jmg.bmj.com/content/43/3/274.full
- ↑ "Ectodermal dysplasia, pure hair-nail type". Gfmer.ch. 2009-12-26. Retrieved 2010-01-20.
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