A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia.
Tsai
F J
FJ
Department of Pediatrics and Medical Genetics, China Medical College Hospital, Taichung, Taiwan. d0704@hpd.cmch.org.tw
Wu
J Y
JY
Lin
W D
WD
Tsai
C H
CH
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002675:Child, Preschool; D002973:Cleidocranial Dysplasia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D050657:Core Binding Factor alpha Subunits; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011859:Radiography; D014157:Transcription Factors / Q000235:genetics*
D050657:Core Binding Factor alpha Subunits; D004268:DNA-Binding Proteins; D014157:Transcription Factors; C406688:core binding factor alpha