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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke, Leonie A; Gardeitchik, Thatjana; Hammond, Peter; Heimdal, Ketil R; Houge, Gunnar; Hufnagel, Sophia B; Ji, Jianling; Johansson, Stefan; Kant, Sarina G; Kinning, Esther; Leon, Eyby L; Newbury-Ecob, Ruth; Paolacci, Stefano; Pfundt, Rolph; Ragge, Nicola K; Rinne, Tuula; Ruivenkamp, Claudia; Saitta, Sulagna C; Sun, Yu; Tartaglia, Marco; Terhal, Paulien A; van Essen, Anthony J; Vigeland, Magnus D; Xiao, Bing; Hennekam, Raoul C.
  • Menke LA; Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
  • Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hammond P; Big Data Institute and Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom.
  • Heimdal KR; Department of Medical genetics, Oslo University Hospital, Oslo, Norway.
  • Houge G; Center for medical genetics and molecular medicine, Haukeland University Hospital, Bergen, Norway.
  • Hufnagel SB; Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.
  • Ji J; Division of Genomic Medicine, Department of Pathology, Children's Hospital Los Angeles and Keck USC School of Medicine, Los Angeles, California.
  • Johansson S; Center for medical genetics and molecular medicine, Haukeland University Hospital, Bergen, Norway.
  • Kant SG; K.G. Jebsen Centre for Neuropsychiatric Disorders, The Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Kinning E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Leon EL; West of Scotland Genetics Service, Queen Elizabeth University Hospitals, Glasgow.
  • Newbury-Ecob R; Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.
  • Paolacci S; Department of Clinical Genetics, University Hospitals Bristol, Bristol.
  • Pfundt R; Department of Experimental Medicine, Sapienza, University of Rome Rome, Italy.
  • Ragge NK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rinne T; Birmingham Women's Hospital, Birmingham, United Kingdom.
  • Ruivenkamp C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Saitta SC; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Sun Y; Division of Genomic Medicine, Department of Pathology, Children's Hospital Los Angeles and Keck USC School of Medicine, Los Angeles, California.
  • Tartaglia M; Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Terhal PA; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • van Essen AJ; Department of Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
  • Vigeland MD; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
  • Xiao B; Department of Medical genetics, Oslo University Hospital, Oslo, Norway.
  • Hennekam RC; Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China.
Am J Med Genet A ; 176(4): 862-876, 2018 04.
Article en En | MEDLINE | ID: mdl-29460469
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Rubinstein-Taybi / Proteína de Unión a CREB / Proteína p300 Asociada a E1A / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Rubinstein-Taybi / Proteína de Unión a CREB / Proteína p300 Asociada a E1A / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2018 Tipo del documento: Article