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.
Le Caignec
Cédric
C
Winer
Norbert
N
Philippe
Henri-Jean
HJ
Rival
Jean-Marie
JM
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
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human