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Phenotype delineation of ZNF462 related syndrome.
Kruszka, Paul; Hu, Tommy; Hong, Sungkook; Signer, Rebecca; Cogné, Benjamin; Isidor, Betrand; Mazzola, Sarah E; Giltay, Jacques C; van Gassen, Koen L I; England, Eleina M; Pais, Lynn; Ockeloen, Charlotte W; Sanchez-Lara, Pedro A; Kinning, Esther; Adams, Darius J; Treat, Kayla; Torres-Martinez, Wilfredo; Bedeschi, Maria F; Iascone, Maria; Blaney, Stephanie; Bell, Oliver; Tan, Tiong Y; Delrue, Marie-Ange; Jurgens, Julie; Barry, Brenda J; Engle, Elizabeth C; Savage, Sarah K; Fleischer, Nicole; Martinez-Agosto, Julian A; Boycott, Kym; Zackai, Elaine H; Muenke, Maximilian.
Affiliation
  • Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Hu T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Hong S; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Cogné B; Service de génétique médicale, Hôtel-Dieu, Nantes, France.
  • Isidor B; Service de génétique médicale, Hôtel-Dieu, Nantes, France.
  • Mazzola SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Giltay JC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • England EM; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sanchez-Lara PA; Keck School of Medicine, University of Southern California, Los Angeles, California.
  • Kinning E; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Adams DJ; West of Scotland Genetics Service, Queen Elizabeth Hospitals, Glasgow, Scotland.
  • Treat K; Personalized Genomic Medicine and Pediatric Genetics, Atlantic Health System, Morristown, New Jersey.
  • Torres-Martinez W; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Bedeschi MF; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
  • Iascone M; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Blaney S; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Bell O; Genetics, Vaccine Preventable Diseases, and Sexual Health, Algoma Public Health, Sault Ste. Marie, Ontario, Canada.
  • Tan TY; Keck School of Medicine, University of Southern California, Los Angeles, California.
  • Delrue MA; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Jurgens J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Barry BJ; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
  • Engle EC; Département de pédiatrie, Service de génétique médicale, Centre Hospitalier Universitaire Ste-Justine, Université de Montréal, Montréal, Québec, Canada.
  • Savage SK; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Fleischer N; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Martinez-Agosto JA; Howard Hughes Medical Institute, Chevy Chase, Maryland.
  • Boycott K; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Zackai EH; Howard Hughes Medical Institute, Chevy Chase, Maryland.
  • Muenke M; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Am J Med Genet A ; 179(10): 2075-2082, 2019 10.
Article in En | MEDLINE | ID: mdl-31361404
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / DNA-Binding Proteins / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / DNA-Binding Proteins / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article