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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.
de Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein, Willemijn M; de Leeuw, Nicole; Mantere, Tuomo; Melo, Uirá S; van Reeuwijk, Jeroen; Smeets, Dominique; Spielmann, Malte; Kleefstra, Tjitske; van Bokhoven, Hans; Vissers, Lisenka E L M.
Affiliation
  • de Boer E; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.
  • Marcelis C; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
  • Neveling K; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.
  • van Beusekom E; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.
  • Hoischen A; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
  • Klein WM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.
  • de Leeuw N; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.
  • Mantere T; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Melo US; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • van Reeuwijk J; Department of Medical Imaging, Radiology, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Smeets D; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.
  • Spielmann M; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands.
  • Kleefstra T; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland.
  • van Bokhoven H; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.
  • Vissers LELM; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
HGG Adv ; 4(3): 100200, 2023 07 13.
Article in En | MEDLINE | ID: mdl-37216008
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Limb Deformities, Congenital Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: HGG Adv Year: 2023 Document type: Article Affiliation country: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Limb Deformities, Congenital Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: HGG Adv Year: 2023 Document type: Article Affiliation country: Netherlands