No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
Kuniba
Hideo
H
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Sato
Daisuke
D
Yoshiura
Koh-ichiro
K
Ohashi
Hirofumi
H
Kurosawa
Kenji
K
Miyake
Noriko
N
Kondoh
Tasturo
T
Matsumoto
Tadashi
T
Nagai
Toshiro
T
Okamoto
Nobuhiko
N
Fukushima
Yoshimitsu
Y
Naritomi
Kenji
K
Matsumoto
Naomichi
N
Niikawa
Norio
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D011905:Genes, ras; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D020935:MAP Kinase Signaling System / Q000235:genetics*; D008297:Male; D009154:Mutation; D017354:Point Mutation; D013577:Syndrome