title: Two independent rare events--a mutation in the RUNX2 gene and a de novo balanced translocation--in a fetus with cleidocranial dysplasia: pitfall in prenatal diagnosis.
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Norbert
authors.initials: N
authors.lastname: Winer
authors.forename: Henri-Jean
authors.initials: HJ
authors.lastname: Philippe
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Rival
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA; D014178:Translocation, Genetic / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human