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Brief Communication
Nature Genetics  24, 342 - 343 (2000)
doi:10.1038/74155

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

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

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

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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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