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Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
Hansen, Adam W; Arora, Payal; Khayat, Michael M; Smith, Leah J; Lewis, Andrea M; Rossetti, Linda Z; Jayaseelan, Joy; Cristian, Ingrid; Haynes, Devon; DiTroia, Stephanie; Meeks, Naomi; Delgado, Mauricio R; Rosenfeld, Jill A; Pais, Lynn; White, Susan M; Meng, Qingchang; Pehlivan, Davut; Liu, Pengfei; Gingras, Marie-Claude; Wangler, Michael F; Muzny, Donna M; Lupski, James R; Kaplan, Craig D; Gibbs, Richard A.
Afiliación
  • Hansen AW; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Arora P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Khayat MM; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
  • Smith LJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rossetti LZ; Department of Biochemistry and Biophysics, Texas A&M University, TX, USA.
  • Jayaseelan J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Cristian I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Haynes D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • DiTroia S; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA.
  • Meeks N; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA.
  • Delgado MR; Broad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Rosenfeld JA; Departments of Pediatrics and Genetics, University of Colorado School of Medicine, Aurora, CO, USA.
  • Pais L; Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
  • White SM; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Meng Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Pehlivan D; Baylor Genetics Laboratories, Houston, TX, USA.
  • Liu P; Broad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Gingras MC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, VIC, Australia.
  • Wangler MF; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Kaplan CD; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
HGG Adv ; 2(1)2021 Jan 14.
Article en En | MEDLINE | ID: mdl-33665635
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: HGG Adv Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: HGG Adv Año: 2021 Tipo del documento: Article