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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.

Clouston syndrome is an hidrotic form of ectodermal dysplasia, inherited as an autosomal dominant trait with high penetrance. The main features of the disorder are alopecia, severe dystrophy of the nails, and palmoplantar hyperkeratosis. A molecular abnormality of keratin has long been hypothesized to be the basic defect in this disorder. We have performed linkage analyses between the disorder and markers close to the keratin gene clusters on chromosomes 12 and 17 and have excluded linkage to these candidate regions in three apparently unrelated families. In addition, linkage has been excluded to four other candidate regions including 1q2l, 17q23-qter, 18q2l, and 2Oql2. These data indicate that Clouston syndrome is not due to a defect in keratin or in a subset of keratin-associated proteins.[1]

References

  1. Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. Hayflick, S.J., Taylor, T., McKinnon, W., Guttmacher, A.E., Litt, M., Zonana, J. J. Invest. Dermatol. (1996) [Pubmed]
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