Complete DiGeorge syndrome associated with CHD7 mutation.
Sanka
Madhurima
M
Tangsinmankong
Nutthapong
N
Loscalzo
Melissa
M
Sleasman
John W
JW
Dorsey
Morna J
MJ
D000015:Abnormalities, Multiple / Q000235:genetics; D003103:Coloboma / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D009154:Mutation
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human