Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
Kuniba
Hideo
H
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kuniba03@nifty.com
Pooh
Ritsuko K
RK
Sasaki
Kensaku
K
Shimokawa
Osamu
O
Harada
Naoki
N
Kondoh
Tatsuro
T
Egashira
Masanori
M
Moriuchi
Hiroyuki
H
Yoshiura
Koh-ichiro
K
Niikawa
Norio
N
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