Pure hair-nail type ectodermal dysplasia
From WikiMD's WELLNESSPEDIA
| Pure hair-nail type ectodermal dysplasia
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|---|---|
| Synonyms | Hair-nail ectodermal dysplasia
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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[edit]
References[edit]
- ↑ "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type".Journal of Medical Genetics.2005;43(3)
- 274–279.doi:10.1136/jmg.2005.033381.PMID:16525032.PMC:2563238.
- ↑ Ectodermal dysplasia, pure hair-nail type(link). {{{website}}}. Gfmer.ch. 2009-12-26.
External links[edit]
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