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A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen, Charlotte A; Jongejan, Aldo; Watson, Peter J; Redeker, Bert; Boelen, Anita; Boudzovitch-Surovtseva, Olga; Forzano, Francesca; Hordijk, Roel; Kelley, Richard; Olney, Ann H; Pierpont, Mary Ella; Schaefer, G Bradley; Stewart, Fiona; van Trotsenburg, A S Paul; Fliers, Eric; Schwabe, John W R; Hennekam, Raoul C.
Affiliation
  • Heinen CA; Department of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands Department of Paediatric Endocrinology, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Jongejan A; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Watson PJ; Department of Biochemistry, Henry Wellcome Laboratories of Structural Biology, University of Leicester, Leicester, UK.
  • Redeker B; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Boelen A; Department of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Boudzovitch-Surovtseva O; Department of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Forzano F; Medical Genetics Unit, Ospedali Galliera, Genova, Italy.
  • Hordijk R; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Kelley R; Division of Metabolism, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland, USA.
  • Olney AH; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Centre, Omaha, Nebraska, USA.
  • Pierpont ME; Division of Genetics, Children's Hospitals and Clinics of Minnesota, University of Minnesota, Minneapolis, Minnesota, USA.
  • Schaefer GB; Division of Medical Genetics, Arkansas Children's Hospital, Little Rock, Arkansas, USA.
  • Stewart F; Division of Medical Genetics, Belfast City Hospital, Belfast, Ireland.
  • van Trotsenburg AS; Department of Paediatric Endocrinology, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Fliers E; Department of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Schwabe JW; Department of Biochemistry, Henry Wellcome Laboratories of Structural Biology, University of Leicester, Leicester, UK.
  • Hennekam RC; Department of Paediatrics, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
J Med Genet ; 53(5): 330-7, 2016 05.
Article in En | MEDLINE | ID: mdl-26769062
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Nuclear Proteins / Gene Expression / Receptors, Cytoplasmic and Nuclear / Mutation, Missense / Lipomatosis Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2016 Type: Article Affiliation country: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Nuclear Proteins / Gene Expression / Receptors, Cytoplasmic and Nuclear / Mutation, Missense / Lipomatosis Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2016 Type: Article Affiliation country: Netherlands