No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Hideo
H
Kuniba
Daisuke
D
Sato
Koh-ichiro
K
Yoshiura
Hirofumi
H
Ohashi
Kenji
K
Kurosawa
Noriko
N
Miyake
Tasturo
T
Kondoh
Tadashi
T
Matsumoto
Toshiro
T
Nagai
Nobuhiko
N
Okamoto
Yoshimitsu
Y
Fukushima
Kenji
K
Naritomi
Naomichi
N
Matsumoto
Norio
N
Niikawa
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