title: A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
authors.affiliation: Dept. of Genetics, Metabolism, and Molecular Medicine, Children's Hospital "Bambino Gesù", Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: C
authors.initials: C
authors.lastname: Patrono
authors.forename: L D
authors.initials: LD
authors.lastname: Florio
authors.forename: M
authors.initials: M
authors.lastname: Velardo
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D006801:Humans; D007558:Italy; D020125:Mutation, Missense / Q000235:genetics*; D009363:Neoplasm Proteins; D014157:Transcription Factors / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors; D014364:Tryptophan; D001120:Arginine