Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation.
Kisiel
B M
BM
Kostrzewa
G
G
Wlasienko
P
P
Kruczek
A
A
Gajdulewicz
M
M
Maciejak
D
D
Wisniewska
M
M
Ploski
R
R
Korniszewski
L
L
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002973:Cleidocranial Dysplasia / Q000175:diagnosis / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011044:Poland
D050659:Core Binding Factor Alpha 1 Subunit