A nonsense mutation in MSX1 causes Witkop syndrome.
Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR.
Jumlongras D, et al. Among authors: felbor u.
Am J Hum Genet. 2001 Jul;69(1):67-74. doi: 10.1086/321271. Epub 2001 May 16.
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PMID: 11369996
Free PMC article.