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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Magoulas, Pilar L; Shchelochkov, Oleg A; Bainbridge, Matthew N; Ben-Shachar, Shay; Yatsenko, Svetlana; Potocki, Lorraine; Lewis, Richard A; Searby, Charles; Marcogliese, Andrea N; Elghetany, M Tarek; Zapata, Gladys; Hernández, Paula P; Gadkari, Manasi; Einhaus, Derek; Muzny, Donna M; Gibbs, Richard A; Bertuch, Alison A; Scott, Daryl A; Corvera, Silvia; Franco, Luis M.
Affiliation
  • Magoulas PL; Texas Children's Hospital, Houston, TX.
  • Shchelochkov OA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Bainbridge MN; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Ben-Shachar S; Rady Children's Institute for Genomic Medicine, San Diego, CA.
  • Yatsenko S; Genetics Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Potocki L; Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine.
  • Lewis RA; Department of Pathology, School of Medicine, and.
  • Searby C; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA.
  • Marcogliese AN; Texas Children's Hospital, Houston, TX.
  • Elghetany MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Hernández PP; Department of Ophthalmology, Baylor College of Medicine, Houston, TX.
  • Gadkari M; University of Iowa, Iowa City, IA.
  • Einhaus D; Texas Children's Hospital, Houston, TX.
  • Muzny DM; Department of Pathology and Immunology and.
  • Gibbs RA; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Bertuch AA; Texas Children's Hospital, Houston, TX.
  • Scott DA; Department of Pathology and Immunology and.
  • Corvera S; Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
  • Franco LM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Blood ; 132(6): 658-662, 2018 08 09.
Article in En | MEDLINE | ID: mdl-29784638

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vesicular Transport Proteins / Primary Myelofibrosis Type of study: Risk_factors_studies Limits: Child / Female / Humans / Infant / Male Language: En Journal: Blood Year: 2018 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vesicular Transport Proteins / Primary Myelofibrosis Type of study: Risk_factors_studies Limits: Child / Female / Humans / Infant / Male Language: En Journal: Blood Year: 2018 Document type: Article