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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A; Scott, Tiana M; Berry, Aliska M; Azamian, Mahshid S; Genetti, Casie; Agrawal, Pankaj B; Picker, Jonathan; Wojcik, Monica H; Delgado, Mauricio R; Lynch, Sally A; Scherer, Stephen W; Howe, Jennifer L; Bacino, Carlos A; DiTroia, Stephanie; VanNoy, Grace E; O'Donnell-Luria, Anne; Lalani, Seema R; Graf, William D; Rosenfeld, Jill A; Eichler, Evan E; Earl, Rachel K; Scott, Daryl A.
  • Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Wang T; Texas Children's Hospital, Houston, Texas, USA.
  • Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
  • Scott TM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
  • Berry AM; Seattle Children's Hospital, Seattle, Washington, USA.
  • Azamian MS; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA.
  • Genetti C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Agrawal PB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Picker J; Texas Children's Hospital, Houston, Texas, USA.
  • Wojcik MH; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Delgado MR; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Lynch SA; Department of Pediatrics, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Scherer SW; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Howe JL; Department of Pediatrics, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Bacino CA; Department of Pediatrics, Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • DiTroia S; Broad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • VanNoy GE; Department of Neurology, University of Texas Southwestern, Dallas, Texas, USA.
  • O'Donnell-Luria A; Scottish Rite for Children, Dallas, Texas, USA.
  • Lalani SR; Clinical Genetics, Dublin 1, Ireland.
  • Graf WD; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Rosenfeld JA; Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.
  • Eichler EE; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Earl RK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Scott DA; Texas Children's Hospital, Houston, Texas, USA.
Hum Mutat ; 43(4): 461-470, 2022 04.
Article en En | MEDLINE | ID: mdl-35094443
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Año: 2022 Tipo del documento: Article