Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.
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| Title: | Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. |
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| Authors: | Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Brugger K; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, 6525 HB Nijmegen, The Netherlands., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria. |
| Source: | Genes [Genes (Basel)] 2023 Jun 02; Vol. 14 (6). Date of Electronic Publication: 2023 Jun 02. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37372397 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Feichtinger+RG%22">Feichtinger RG</searchLink>; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Preisel+M%22">Preisel M</searchLink>; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Brugger+K%22">Brugger K</searchLink>; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Wortmann+SB%22">Wortmann SB</searchLink>; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, 6525 HB Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; University Children's Hospital, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), 5020 Salzburg, Austria. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2023 Jun 02; Vol. 14 (6). <i>Date of Electronic Publication: </i>2023 Jun 02. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37372397 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/genes14061217 Languages: – Code: eng Text: English Titles: – TitleFull: Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Feichtinger RG – PersonEntity: Name: NameFull: Preisel M – PersonEntity: Name: NameFull: Brugger K – PersonEntity: Name: NameFull: Wortmann SB – PersonEntity: Name: NameFull: Mayr JA IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 06 Text: 2023 Jun 02 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 2073-4425 Numbering: – Type: volume Value: 14 – Type: issue Value: 6 Titles: – TitleFull: Genes Type: main |
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