title: Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kuniba
authors.forename: M
authors.initials: M
authors.lastname: Tsuda
authors.forename: M
authors.initials: M
authors.lastname: Nakashima
authors.forename: S
authors.initials: S
authors.lastname: Miura
authors.forename: N
authors.initials: N
authors.lastname: Miyake
authors.forename: T
authors.initials: T
authors.lastname: Kondoh
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Moriuchi
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: K
authors.initials: K
authors.lastname: Kurosawa
authors.forename: H
authors.initials: H
authors.lastname: Tonoki
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: A
authors.initials: A
authors.lastname: Kinoshita
authors.forename: K-i
authors.initials: KI
authors.lastname: Yoshiura
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: 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*
chemical_list: 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