Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis.
Chen
Chih-Ping
CP
Chern
Schu-Rern
SR
Lin
Shuan-Pei
SP
Wang
Wayseen
W
Tsai
Fuu-Jen
FJ
D000328:Adult; D000649:Amniocentesis; D003398:Craniosynostoses / Q000000981:diagnostic imaging*; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D011859:Radiography; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012886:Skull / Q000000981:diagnostic imaging / Q000196:embryology; D014463:Ultrasonography
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2