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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Herkert, Johanna C; Verhagen, Judith M A; Yotti, Raquel; Haghighi, Alireza; Phelan, Dean G; James, Paul A; Brown, Natasha J; Stutterd, Chloe; Macciocca, Ivan; Leong, Kai'En; Bulthuis, Marian L C; van Bever, Yolande; van Slegtenhorst, Marjon A; Boven, Ludolf G; Roberts, Amy E; Agarwal, Radhika; Seidman, Jonathan; Lakdawala, Neal K; Fernández-Avilés, Francisco; Burke, Michael A; Pierpont, Mary Ella; Braunlin, Elizabeth; Caglayan, Ahmet Okay; Barge-Schaapveld, Daniela Q C M; Birnie, Erwin; van Osch-Gevers, Lennie; van Langen, Irene M; Jongbloed, Jan D H; Lockhart, Paul J; Amor, David J; Seidman, Christine E; van de Laar, Ingrid M B H.
Affiliation
  • Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address: j.c.herkert@umcg.nl.
  • Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. Electronic address: j.m.a.verhagen@erasmusmc.nl.
  • Yotti R; Instituto de Investigación Sanitaria Gregorio Maranón, and CIBERCV, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
  • Haghighi A; Department of Genetics, Harvard Medical School Boston, MA, USA; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA.
  • Phelan DG; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia.
  • James PA; Genetic Medicine, Royal Melbourne Hospital, Victoria, Australia.
  • Brown NJ; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia.
  • Stutterd C; Genetic Medicine, Royal Melbourne Hospital, Victoria, Australia.
  • Macciocca I; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia.
  • Leong K; Department of Cardiology, The Royal Children's Hospital, Victoria, Australia.
  • Bulthuis MLC; University of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, Groningen, The Netherlands.
  • van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Boven LG; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
  • Roberts AE; Department of Cardiology, Boston Children Hospital, Boston, MA, USA.
  • Agarwal R; Department of Genetics, Harvard Medical School Boston, MA, USA.
  • Seidman J; Department of Genetics, Harvard Medical School Boston, MA, USA.
  • Lakdawala NK; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA.
  • Fernández-Avilés F; Instituto de Investigación Sanitaria Gregorio Maranón, and CIBERCV, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
  • Burke MA; Department of Medicine, Division of Cardiology, Emory University, Atlanta, GA, USA.
  • Pierpont ME; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Braunlin E; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Caglayan AO; Department of Medical Genetics, School of Medicine, Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylül University, Izmir, Turkey; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA.
  • Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Birnie E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
  • van Osch-Gevers L; Department of Pediatric Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • van Langen IM; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
  • Jongbloed JDH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
  • Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia.
  • Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Resear
  • Seidman CE; Department of Genetics, Harvard Medical School Boston, MA, USA; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Am Heart J ; 225: 108-119, 2020 07.
Article in En | MEDLINE | ID: mdl-32480058
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Full text: 1 Database: MEDLINE Main subject: Protein Kinases / Mutation, Missense / Loss of Function Mutation / Heterozygote / Muscle Proteins / Cardiomyopathies Limits: Adult / Child / Child, preschool / Humans / Infant Language: En Year: 2020 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Protein Kinases / Mutation, Missense / Loss of Function Mutation / Heterozygote / Muscle Proteins / Cardiomyopathies Limits: Adult / Child / Child, preschool / Humans / Infant Language: En Year: 2020 Type: Article