title: [Case of Pitt-Hopkins syndrome].
authors.forename: S
authors.initials: S
authors.lastname: Fukumura
authors.forename: N
authors.initials: N
authors.lastname: Tachi
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006801:Humans; D006985:Hyperventilation / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins; D000073940:Transcription Factor 4; D014157:Transcription Factors; C065500:ASCL1 protein, human; C532096:TCF4 protein, human