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Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt, Julia; Dreha-Kulaczewski, Steffi; Zafeiriou, Maria-Patapia; Schreiber, Marie-Kristin; Wilken, Bernd; Funke, Rudolf; Neuhofer, Christiane M; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Biskup, Saskia; Li, Yun; Zimmermann, Wolfram Hubertus; Kaulfuß, Silke; Yigit, Gökhan; Wollnik, Bernd.
Afiliação
  • Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Dreha-Kulaczewski S; Department of Pediatics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
  • Zafeiriou MP; Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.
  • Schreiber MK; DZHK (German Center for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.
  • Wilken B; Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany.
  • Funke R; Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany.
  • Neuhofer CM; Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany.
  • Altmüller J; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
  • Thiele H; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
  • Nürnberg P; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Biskup S; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.
  • Li Y; Department of Neurology, Friedrich-Baur-Institute, LMU Hospital, Ludwig Maximilians University, Munich, Germany.
  • Zimmermann WH; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
  • Kaulfuß S; Berlin Institute of Health at Charité, Core Facility Genomics, Berlin, Germany.
  • Yigit G; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
  • Wollnik B; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
Front Cell Dev Biol ; 10: 1025332, 2022.
Article em En | MEDLINE | ID: mdl-36467423

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article