title: Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kuniba03@nifty.com
authors.forename: Hideo
authors.initials: H
authors.lastname: Kuniba
authors.forename: Ritsuko K
authors.initials: RK
authors.lastname: Pooh
authors.forename: Kensaku
authors.initials: K
authors.lastname: Sasaki
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
authors.forename: Masanori
authors.initials: M
authors.lastname: Egashira
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Moriuchi
authors.forename: Koh-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics*; D000649:Amniocentesis; D001483:Base Sequence; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D011905:Genes, ras; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D006831:Polyhydramnios / Q000000981:diagnostic imaging* / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal