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Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Vansenne, Fleur; Fock, Johanna M; Stolte-Dijkstra, Irene; Meiners, Linda C; van den Boogaard, Marie-Jose H; Jaeger, Bregje; Boven, Ludolf; Vos, Yvonne J; Sinke, Richard J; Verbeek, Dineke S.
Affiliation
  • Vansenne F; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: f.vansenne@umcg.nl.
  • Fock JM; Department of Pediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Stolte-Dijkstra I; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Meiners LC; Department of Radiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands.
  • Jaeger B; Department of Pediatric Neurology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  • Boven L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Vos YJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Sinke RJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Verbeek DS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Eur J Paediatr Neurol ; 41: 91-98, 2022 Nov.
Article in En | MEDLINE | ID: mdl-36410285
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract Limits: Humans Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2022 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract Limits: Humans Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2022 Type: Article