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

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Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family.

Hidrotic ectodermal dysplasia ( HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and palmoplantar hyperkeratosis, which maps to chromosome 13q11-q12. 1. We confirmed linkage of HED to this region in a large French family. To define the critical region for HED, detailed haplotypes were constructed with new pericentromeric polymorphic markers. A recombination event in the family indicates that the HED locus maps centromeric to D13S1832. Our French family does not share a common haplotype with other pedigrees previously published (particularly French-Canadian), indicating that the mutations in these families are likely to be of different origin.[1]

References

  1. Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., Rouleau, G.A., Waksman, G. Br. J. Dermatol. (2000) [Pubmed]
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