Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays.
Kim
Y
Y
Kim
S-S
SS
Kim
G
G
Park
S
S
Park
I S
IS
Yoo
H-W
HW
D016022:Case-Control Studies; D002897:Chromosomes, Human, Pair 7; D019175:DNA Methylation; D005145:Face / Q000002:abnormalities; D051383:GRB10 Adaptor Protein; D006130:Growth Disorders / Q000235:genetics*; D006257:Head / Q000002:abnormalities; D006801:Humans; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D024182:Uniparental Disomy / Q000235:genetics*
C096358:GRB10 protein, human; D011506:Proteins; C103637:mesoderm specific transcript protein; D051383:GRB10 Adaptor Protein