title: Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.
authors.affiliation: Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.forename: Aditi S
authors.initials: AS
authors.lastname: Parikh
authors.forename: Amanda
authors.initials: A
authors.lastname: Hahn
authors.forename: Shana N
authors.initials: SN
authors.lastname: Miskovsky
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Derek E
authors.initials: DE
authors.lastname: Neilson
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D001842:Bone and Bones / Q000002:abnormalities* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors