Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF.
Izumi
Kosuke
K
Yahagi
Naohisa
N
Fujii
Yasushi
Y
Higuchi
Masataka
M
Kosaki
Rika
R
Naito
Yoko
Y
Nishimura
Gen
G
Hosokai
Noboru
N
Takahashi
Takao
T
Kosaki
Kenjiro
K
D018376:Cardiovascular Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A