Article
A nonsense mutation in MSX1 causes Witkop syndrome.
American journal of human genetics - 1 Jul 2001
Jumlongras D, Bei M, Stimson J M, Wang W F, DePalma S R, Seidman C E, Felbor U, Maas R, Seidman J G, Olsen B R
Abstract excerpt
Witkop syndrome, also known as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder. Affected individuals have nail dysplasia and several congenitally missing teeth. To identify the gene responsible for TNS, we used candidate-gene linkage analysis in a three-generation family affected by the disorder. We found linkage between TNS and polymorphic markers surrounding the MSX1 locus. Direct...
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