Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
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| Title: | Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome. |
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| Authors: | Barington M; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Kjartansdóttir KR; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Birkedal U; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Hove HB; Center for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63581. Date of Electronic Publication: 2024 Apr 11. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A 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: 38600862 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Barington+M%22">Barington M</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Bak+M%22">Bak M</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Kjartansdóttir+KR%22">Kjartansdóttir KR</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hansen+TVO%22">Hansen TVO</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Birkedal+U%22">Birkedal U</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Østergaard+E%22">Østergaard E</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hove+HB%22">Hove HB</searchLink>; Center for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63581. <i>Date of Electronic Publication: </i>2024 Apr 11. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38600862 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.63581 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e63581 Titles: – TitleFull: Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Barington M – PersonEntity: Name: NameFull: Bak M – PersonEntity: Name: NameFull: Kjartansdóttir KR – PersonEntity: Name: NameFull: Hansen TVO – PersonEntity: Name: NameFull: Birkedal U – PersonEntity: Name: NameFull: Østergaard E – PersonEntity: Name: NameFull: Hove HB IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2024 Aug Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 194 – Type: issue Value: 8 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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