MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
MJH van den Boogaard, M Dorland, FA Beemer… - Nature …, 2000 - nature.com
MJH van den Boogaard, M Dorland, FA Beemer, HKP van Amstel
Nature genetics, 2000•nature.comMSX1 mutation is associated with orofacial clefting and tooth agenesis in humans | Nature
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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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