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

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

Abstract

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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Acknowledgements

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

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Authors and Affiliations

  1. Department of Medical Genetics, University Medical Center Utrecht, The Netherlands

    Marie-José H. van den Boogaard, Marinus Dorland, Frits A. Beemer & Hans Kristian Ploos van Amstel

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  1. Marie-José H. van den Boogaard
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  2. Marinus Dorland
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  3. Frits A. Beemer
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  4. Hans Kristian Ploos van Amstel
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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). https://doi.org/10.1038/74155

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