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Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E; Gahl, William A; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C M.
  • Yeetong P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Vilboux T; Faculty of Science, Division of Human Genetics, Department of Botany, Chulalongkorn University, Bangkok, Thailand.
  • Ciccone C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Boulier K; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia.
  • Schnur RE; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Huizing M; Division of Genetics, Department of Pediatrics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, New Jersey.
  • Laje G; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Smith AC; Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A ; 170(9): 2383-8, 2016 09.
Article en En | MEDLINE | ID: mdl-27311559
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Factores de Transcripción / Codón sin Sentido / Estudios de Asociación Genética / Síndrome de Smith-Magenis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Factores de Transcripción / Codón sin Sentido / Estudios de Asociación Genética / Síndrome de Smith-Magenis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2016 Tipo del documento: Article