Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome - Luong, Anh; Ho, Thuong; Hoang, Ha; Nguyen, Trung; Ho, Tu; Tran, Phan; Hoang, Thuy; Nguyen, Nam; Chu, Hoang (Biomedical reports, 2019)
Keywords: Amniotic fluid; Autosomal dominant inheritance; Biochemistry; Chemical bonds; Cranial sutures; Craniofacial dysostosis; Craniosynostosis; Crouzon syndrome; Deoxyribonucleic acid; Diagnosis; DNA; Enzymes; Exophthalmos; Fetuses; Fibroblast growth factor receptor 2; Fibroblast growth factors; Fibroblasts; Gene mutation; Genes; Genetic disorders; Genetic research; Genetic testing; Growth factors; Hereditary diseases; Hypoplasia; Intelligence; Kinases; Leukocytes; Medical examination; Medical research; Missense mutation; Mutation; Novels; Patients; Peripheral blood; Polymerase chain reaction; Pregnant women; Prenatal diagnosis; Proteins; Reagents; Studies; Vietnam; United States--US; Germany; craniosynostosis; fibroblast growth factor receptor 2 mutation; Vietnamese family case; molecular analysis; Crouzon syndrome