… 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 …

… non-syndromic tooth agenesis and their families were enrolled in … , in autosomal dominant
[9], autosomal recessive [10] or X-… 7 MSX1 missense mutations from all missense/nonsense …

… lack of teeth, hypodontia and oligodontia are respectively … -phenotype correlations in
MSX1-associated tooth agenesis. A… findings might be associated with the underlying alveolar …

… (<six missing teeth), oligodontia (>six missing teeth), and … agenesis and to identify an
underlying genetic cause. We present a … A panel of genes, including MSX1, PAX9, AXIN2, FGFR1, …

… MSX1-associated tooth agenesis involved bilaterally … AXIN2 nonsense mutations caused
syndromic tooth agenesis… in tooth agenesis might be predictive of underlying genotype. …

… sites in members of family 10A (WNT10A), MSX1 and PAX9 … causes of dental agenesis,
where MSX1 missense mutations can … MSX1 in oligodontia inhibits odontogenesis of dental pulp …

… The Collaborative Cross (CC) is a community resource designed to improve our knowledge
… the dental and skeletal fields of the CC, 2) to identify novel molecular determinants of dental …

… with an autosomal recessive trait are … Mutations in PAX9 typically show a nonsyndromic
autosomal dominant mode of inheritance for oligodontia with variable expressivity within families…

… of a Pakistani family afflicted with TA with variable associated … of less than 6 teeth and
oligodontia, agenesis of 6 or more teeth. … that this variant underlies the disorder in the family. The …

… possible underlying genetic defect, because point mutations in … MSX1 mutations are typically
associated either to ectodermal … , as for most SMARCA4 nonsense mutations. However, the …