title: A novel MSX1 mutation in hypodontia.
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.
authors.affiliation: Department of Orthodontics, School of Dentistry, Faculty of Medicine, Catholic University Leuven, Leuven, Belgium.
authors.forename: S
authors.initials: S
authors.lastname: De Muynck
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: A
authors.initials: A
authors.lastname: Verdonck
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: C
authors.initials: C
authors.lastname: Carels
mesh_terms: D000848:Anodontia / Q000000981:diagnostic imaging / Q000235:genetics*; D001483:Base Sequence; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051957:MSX1 Transcription Factor; D008297:Male; D009154:Mutation; D011859:Radiography; D017421:Sequence Analysis
chemical_list: D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human