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  • Title: A novel MSX1 mutation in hypodontia.
    Author: De Muynck S, Schollen E, Matthijs G, Verdonck A, Devriendt K, Carels C.
    Journal: Am J Med Genet A; 2004 Aug 01; 128A(4):401-3. PubMed ID: 15264286.
    Abstract:
    MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in three individuals of one family.
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