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A Nonsense Mutation in MSX1 Causes Witkop Syndrome

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 affecte...

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Hlavní autoři: Jumlongras, Dolrudee, Bei, Marianna, Stimson, Jean M., Wang, Wen-Fang, DePalma, Steven R., Seidman, Christine E., Felbor, Ute, Maas, Richard, Seidman, Jonathan G., Olsen, Bjorn R.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226049/
https://ncbi.nlm.nih.gov/pubmed/11369996
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