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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

An Errata/Corrections to this article was published on 01 May 2000


A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1. The mutant phenotype of the family is similar to that of the Msx1-mutant mouse.

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Figure 1: Segregation of clefting and tooth agenesis.
Figure 2: MSX1 nonsense mutation.


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We thank P.L. Pearson for his suggestions in preparing this manuscript.

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van den Boogaard, MJ., Dorland, M., Beemer, F. et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24, 342–343 (2000).

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