… association with other anomalies, the mode of inheritance is autosomal dominant. … Pakistani
kindreds with an autosomal recessive form of oligodontia with associated dental anomalies. …

… However, reported mutations underlying non-syndromic oligodontia in … family, our
findings are in agreement with previous reports on frequency of tooth loss with MSX1 mutations…

… the causal gene mutation(s) in a family of two sisters with severe hypodontia (oligodontia) …
well established strategy for discovering rare alleles underlying Mendelian disorders. In this …

… as a missense mutation, has not been reported in literature. … aiming to determine gene
mutations underlying missing teeth. … anomalies and autosomal recessive form of oligodontia and …

… We found that, among these variants, 75% of the missense … novel MSX1 variants in
Chinese families with oligodontia inherited in an autosomal-dominant manner: three missense …

… Signals from the underlying signalling centres are mediated by … one case of autosomal
recessive oligodontia has appeared [… in Japanese family with non-syndromic oligodontia. They …

… To the best of our knowledge, many mutations have been detected in the MSX1 gene, most
… Another missense mutation was detected in the Pakistani families affected with oligodontia. …

… agenesis are missense or nonsense mutations. … Therefore, we conclude that this non-stop
mutation in MSX1 causes autosomal dominant non-syndromic oligodontia in our study family. …

… form of oligodontia with associated dental anomalies. Locus in this … tooth agenesis and
detected a novel nonsense mutation (c.416G>A) in exon 1 of Msx1 from a family with oligodontia. …

… Tooth agenesis is a highly heterogeneous genetic disorder which can show an autosomal
recessive, autosomal dominant or X-linked … of MSX1 mutations, the underlying mechanisms …