title: Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
authors: K
authors: K
authors: Takano
authors: W-H
authors: WH
authors: Tan
authors: M B
authors: MB
authors: Irons
authors: J R
authors: JR
authors: Jones
authors: C E
authors: CE
authors: Schwartz
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D002648:Child; D004265:DNA Helicases / Q000235:genetics*; D003937:Diagnosis, Differential; D019066:Facies; D016368:Frameshift Mutation; D005820:Genetic Testing; D006801:Humans; D006985:Hyperventilation / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics*; D000075924:X-linked Nuclear Protein
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D009687:Nuclear Proteins; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein