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

Nature Genetics volume 24, pages 342343 (2000) | Download Citation

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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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Acknowledgements

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

Author information

Affiliations

  1. Department of Medical Genetics, University Medical Center Utrecht, The Netherlands. M.J.H.vandenBoogaard@dmg.azu.nl

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

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DOI

https://doi.org/10.1038/74155

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