Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18.
Chen
Chih-Ping
CP
Su
Yi-Ning
YN
Hsu
Chin-Yuan
CY
Ling
Pei-Ying
PY
Tsai
Fuu-Jen
FJ
Chern
Schu-Rern
SR
Wu
Pei-Chen
PC
Chen
Hsiao-En Cindy
HE
Wang
Wayseen
W
D000028:Abortion, Induced; D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D000328:Adult; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis; D014463:Ultrasonography
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2