Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome.
Patrick K C
PK
Au
Yvonne K Y
YK
Kwok
K Y
KY
Leung
Linda Y F
LY
Tang
Mary H Y
MH
Tang
Elizabeth T
ET
Lau
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics*; D004247:DNA / Q000097:blood; D005260:Female; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
D004247:DNA; D051497:Receptor, Fibroblast Growth Factor, Type 2