@article{bc9c596458a144df9db1f737c56b58cb,
title = "Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17",
abstract = "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 1q21, 17q23-qter, 18q21, and 20q12. These data indicate that Clouston syndrome is not due to a defect in keratin or in a subset of keratin-associated proteins.",
keywords = "Gene mapping, Hyperkeratosis, Linkage, Microsatellite markers",
author = "Hayflick, \{Susan J.\} and Todd Taylor and Wendy McKinnon and Guttmacher, \{Alan E.\} and Mike Litt and Jonathan Zonana",
year = "1996",
month = jan,
day = "1",
doi = "10.1111/1523-1747.ep12295239",
language = "English (US)",
volume = "107",
pages = "11--14",
journal = "Journal of Investigative Dermatology",
issn = "0022-202X",
publisher = "Elsevier B.V.",
number = "1",
}