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A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Balak, Chris; Belnap, Newell; Ramsey, Keri; Joss, Shelagh; Devriendt, Koen; Naymik, Marcus; Jepsen, Wayne; Siniard, Ashley L; Szelinger, Szabolcs; Parker, Mary E; Richholt, Ryan; Izatt, Tyler; LaFleur, Madison; Terraf, Panieh; Llaci, Lorida; De Both, Matt; Piras, Ignazio S; Rangasamy, Sampathkumar; Schrauwen, Isabelle; Craig, David W; Huentelman, Matt; Narayanan, Vinodh.
Afiliación
  • Balak C; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Belnap N; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Ramsey K; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Joss S; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, United Kingdom.
  • Devriendt K; Center for Human Genetics (Centrum Menselijke Erfelijkheid), University of Leuven, Leuven, Belgium.
  • Naymik M; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Jepsen W; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Siniard AL; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Szelinger S; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Parker ME; UCLA Pathology & Laboratory Medicine, UCLA Center for the Health Sciences, Los Angeles, California.
  • Richholt R; Department of Physical Therapy, Texas State University, San Marcos, Texas.
  • Izatt T; U.R. Our Hope, , Undiagnosed and Rare Disorder Organization, Austin, Texas.
  • LaFleur M; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Terraf P; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Llaci L; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • De Both M; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Piras IS; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Rangasamy S; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Schrauwen I; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Craig DW; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Huentelman M; Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, Arizona.
  • Narayanan V; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 176(7): 1549-1558, 2018 07.
Article en En | MEDLINE | ID: mdl-30160831
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Discapacidades del Desarrollo / Mutación del Sistema de Lectura / Deleción Cromosómica / Proteínas Ligasas SKP Cullina F-box / Trastorno Dismórfico Corporal / Epilepsia Refractaria Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 1 / Discapacidades del Desarrollo / Mutación del Sistema de Lectura / Deleción Cromosómica / Proteínas Ligasas SKP Cullina F-box / Trastorno Dismórfico Corporal / Epilepsia Refractaria Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article