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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

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Title: Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Authors: Fergelot P; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France., Van Belzen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Van Gils J; Department of Genetics, University Hospital Center, Bordeaux, France., Afenjar A; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France., Armour CM; Regional Genetics Unit, Children's Hospital of Eastern Ontario, Ottawa, Canada., Arveiler B; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France., Beets L; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands., Burglen L; Unité de Génétique, Hospital Armand Trousseau-La Roche-Guyon, AP-HP, Paris, France., Busa T; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France., Collet M; Département de Génétique, Hospital Necker-Enfants Malades, AP-HP, Paris, France., Deforges J; Department of Genetics, University Hospital Center, Bordeaux, France., de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Dominguez Garrido E; Center for Biomedical Research, Logrono-La Rioja, Spain., Dorison N; Departement de Neuropédiatrie, Institut Jérôme Lejeune, Paris, France., Dupont J; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, CHLN, Lisboa, Portugal., Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France., Garciá-Minaúr S; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain., Gabau Vila E; Genetics Clinic, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Sabadell, Spain., Gebre-Medhin S; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden., Gener Querol B; Hospital de Cruces, Baracaldo, Spain., Geneviève D; Service de Génétique Médicale, Hospital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France., Gérard M; Service de Génétique, Hospital Clémenceau, CHU de Caen, Caen, France., Gervasini CG; Department of Medical Genetics, University of Milan, Milan, Italy., Goldenberg A; Unité de Génétique Clinique, Hospital Charles Nicolle, CHU Rouen, Rouen, France., Josifova D; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom., Lachlan K; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., Maas S; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands., Maranda B; Laboratoire de Médecine Génétique, CHUQ Pavillon CHUL, Saint Foy, Canada., Moilanen JS; PEDEGO Research Unit, and Medical Research Center Oulu, Department of Clinical Genetics, University of Oulu, Oulu University Hospital, Oulu, Finland., Nordgren A; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Parent P; Département de Pédiatrie et Génétique Médicale, Hospital Augustin Morvan, CHU Brest, Brest, France., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Reardon W; Our Lady's Hospital for Sick Children, Crumlin, Ireland., Rio M; Unité de Génétique Clinique, Hospital La Timone, AP-HM, Marseille, France., Roume J; Unité de Génétique Médicale, CHI Poissy, Saint Germain en Laye, France., Shaw A; Department of Medical Genetics, Guy's and St Thomas Hospital, London, United Kingdom., Smigiel R; Department of Paediatrics, Wroclaw Medical University, Wroclaw, Poland., Sojo A; Hospital de Cruces, Baracaldo, Spain., Solomon B; Division of Medical Genomics, Inova Translational Medical Institute, Falls Church., Stembalska A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Suarez F; Service de Génétique, Hospital Virgen de la Salud, Toledo, Spain., Terhal P; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Thomas S; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom., Touraine R; Service de Génétique Clinique et Moléculaire, CHU Hôpital-Nord, Saint-Etienne, France., Verloes A; Département de Génétique, CHU Robert Debré, AP-HP, Paris, France., Vincent-Delorme C; Service de Génétique Médicale, Hospital d'Arras, CHU de Lille, Arras, France., Wincent J; Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden., Peters DJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bartsch O; Institute of Human Genetics, University Medical Centre, Mainz, Germany., Larizza L; Department of Health Sciences, University of Milan, Milan, Italy., Lacombe D; Department of Genetics, and INSERM U1211, University Hospital of Bordeaux, Bordeaux, France., Hennekam RC; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3069-3082. Date of Electronic Publication: 2016 Sep 20.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
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