Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status.
Mergenthaler
S
S
Eggermann
K
K
Tomiuk
J
J
Ranke
M B
MB
Wollmann
H A
HA
Eggermann
T
T
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000209:etiology / Q000235:genetics; D018392:Genomic Imprinting; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C491709:PAX4 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors