Article
De novo mutations in monilethrix.
Experimental dermatology - 1 Dec 2003
Horev Liran, Djabali Karima, Green Jack, Sinclair Rodney, Martinez-Mir Amalia, Ingber Arieh, Christiano Angela M, Zlotogorski Abraham
Abstract excerpt
Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in whicn the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb2 and hHb6 genes in seven patients. In five patients no mutations...
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