Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.
Cardoso
Bruno Miguel
BM
Neonatal Unit Genetics Unit, Department of Pediatrics, Santa Maria Hospital GenoMed Diagnostic Laboratory, Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal.
Dupont
Juliette
J
Castanhinha
Susana
S
Ejarque-Albuquerque
Margarida
M
Pereira
Sónia
S
Miltenberger-Miltenyi
Gabriel
G
Oliveira
Graça
G
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
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human