Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

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Title: Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Authors: 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.
Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Nov; Vol. 41, pp. 91-98. Date of Electronic Publication: 2022 Nov 12.
Publication Type: Journal Article
Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
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  Data: <searchLink fieldCode="AU" term="%22Vansenne+F%22">Vansenne F</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: f.vansenne@umcg.nl.<br /><searchLink fieldCode="AU" term="%22Fock+JM%22">Fock JM</searchLink>; Department of Pediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Stolte-Dijkstra+I%22">Stolte-Dijkstra I</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Meiners+LC%22">Meiners LC</searchLink>; Department of Radiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+den+Boogaard+MH%22">van den Boogaard MH</searchLink>; Department of Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Jaeger+B%22">Jaeger B</searchLink>; Department of Pediatric Neurology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Boven+L%22">Boven L</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vos+YJ%22">Vos YJ</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Sinke+RJ%22">Sinke RJ</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Verbeek+DS%22">Verbeek DS</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
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  Data: <searchLink fieldCode="JN" term="%229715169%22">European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society</searchLink> [Eur J Paediatr Neurol] 2022 Nov; Vol. 41, pp. 91-98. <i>Date of Electronic Publication: </i>2022 Nov 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Saunders%22">Saunders </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9715169 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1532-2130 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210903798%22">10903798 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Paediatr Neurol <i>Subsets: </i>MEDLINE
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              Text: 2022 Nov
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