title: TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.
authors: Research Group Human Genetics, Division of Medical Genetics, University Children's Hospital Basel and Department of Biomedicine, University of Basel Department of Obstetrics and Gynecology, University Hospital Basel, Basel Department of Pediatrics, Mendrisio and Bellinzona Hospitals, Bellinzona Center of Laboratory Medicine, Cantonal Hospital, Aarau, Switzerland.
authors: Jan A
authors: JA
authors: Sidler
authors: Isabel
authors: I
authors: Filges
authors: Nemya
authors: N
authors: Boesch
authors: Gian Paolo
authors: GP
authors: Ramelli
authors: Benno
authors: B
authors: Röthlisberger
authors: Andreas R
authors: AR
authors: Huber
authors: Sevgi
authors: S
authors: Tercanli
authors: Lucio
authors: L
authors: Bronz
authors: Peter
authors: P
authors: Miny
authors: Karl
authors: K
authors: Heinimann
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003062:Codon; D004268:DNA-Binding Proteins / Q000235:genetics*; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities; D023061:Gene Order; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D015826:Langer-Giedion Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009666:Nose / Q000002:abnormalities; D011859:Radiography; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D003062:Codon; D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors