A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
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| Title: | A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. |
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| Authors: | Diets IJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Prescott T; Department of Medical Genetics, Telemark Hospital, Ulefossveien, Skien, Norway., Champaigne NL; Greenwood Genetic Center, Greenwood, South Carolina, USA., Mancini GMS; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Krossnes B; Department of Pathology, Oslo University Hospital, the Norwegian Radium Hospital, Oslo, Norway., Frič R; Section for Paediatric Neurosurgery and Craniofacial Surgery, Department of Neurosurgery, Oslo University Hospital - Rikshospitalet, Oslo, Norway., Kocsis K; Children's Hospital Colorado, University of Colorado, Department of Clinical Genetics and Metabolism, Aurora, Colorado, USA., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 572-579. Date of Electronic Publication: 2018 Jun 15. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29907796 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Diets+IJ%22">Diets IJ</searchLink>; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Prescott+T%22">Prescott T</searchLink>; Department of Medical Genetics, Telemark Hospital, Ulefossveien, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Champaigne+NL%22">Champaigne NL</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Mancini+GMS%22">Mancini GMS</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Krossnes+B%22">Krossnes B</searchLink>; Department of Pathology, Oslo University Hospital, the Norwegian Radium Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Frič+R%22">Frič R</searchLink>; Section for Paediatric Neurosurgery and Craniofacial Surgery, Department of Neurosurgery, Oslo University Hospital - Rikshospitalet, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Kocsis+K%22">Kocsis K</searchLink>; Children's Hospital Colorado, University of Colorado, Department of Clinical Genetics and Metabolism, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Jongmans+MCJ%22">Jongmans MCJ</searchLink>; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2019 Mar; Vol. 21 (3), pp. 572-579. <i>Date of Electronic Publication: </i>2018 Jun 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29907796 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41436-018-0079-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 572 Titles: – TitleFull: A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Diets IJ – PersonEntity: Name: NameFull: Prescott T – PersonEntity: Name: NameFull: Champaigne NL – PersonEntity: Name: NameFull: Mancini GMS – PersonEntity: Name: NameFull: Krossnes B – PersonEntity: Name: NameFull: Frič R – PersonEntity: Name: NameFull: Kocsis K – PersonEntity: Name: NameFull: Jongmans MCJ – PersonEntity: Name: NameFull: Kleefstra T IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2019 Mar Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1530-0366 Numbering: – Type: volume Value: 21 – Type: issue Value: 3 Titles: – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics Type: main |
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