title: Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.
authors.affiliation: Neonatal Unit Genetics Unit, Department of Pediatrics, Santa Maria Hospital GenoMed Diagnostic Laboratory, Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal.
authors.forename: Bruno Miguel
authors.initials: BM
authors.lastname: Cardoso
authors.forename: Juliette
authors.initials: J
authors.lastname: Dupont
authors.forename: Susana
authors.initials: S
authors.lastname: Castanhinha
authors.forename: Margarida
authors.initials: M
authors.lastname: Ejarque-Albuquerque
authors.forename: Sónia
authors.initials: S
authors.lastname: Pereira
authors.forename: Gabriel
authors.initials: G
authors.lastname: Miltenberger-Miltenyi
authors.forename: Graça
authors.initials: G
authors.lastname: Oliveira
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D002973:Cleidocranial Dysplasia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D010294:Parietal Bone / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human