Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
Kuniba
H
H
Tsuda
M
M
Nakashima
M
M
Miura
S
S
Miyake
N
N
Kondoh
T
T
Matsumoto
T
T
Moriuchi
H
H
Ohashi
H
H
Kurosawa
K
K
Tonoki
H
H
Nagai
T
T
Okamoto
N
N
Kato
M
M
Fukushima
Y
Y
Naritomi
K
K
Matsumoto
N
N
Kinoshita
A
A
Yoshiura
K-i
KI
Niikawa
N
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D045643:DNA Repair Enzymes; D005260:Female; D018628:Gene Dosage; D006801:Humans; D006867:Hydrolases; D008607:Intellectual Disability / Q000235:genetics*; D007564:Japan; D008297:Male; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C404492:FLRT3 protein, human; C523332:MACROD2 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D014157:Transcription Factors; D004247:DNA; D006867:Hydrolases; D045643:DNA Repair Enzymes