A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
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| Title: | A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction. |
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| Authors: | Alhendi ASN; Faculty of Medicine, University of Southampton, UK., Gazdagh G; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Lim D; Birmingham Women's and Children's Foundation Trust, UK., McMullan D; Birmingham Women's and Children's Foundation Trust, UK., Wright M; Newcastle Hospitals NHS Foundation Trust, UK., Temple IK; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Davies JH; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK., Mackay DJG; Faculty of Medicine, University of Southampton, UK. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 383-388. Date of Electronic Publication: 2023 Oct 18. |
| Publication Type: | Case Reports; Journal Article |
| 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: 37850521 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Alhendi+ASN%22">Alhendi ASN</searchLink>; Faculty of Medicine, University of Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Gazdagh+G%22">Gazdagh G</searchLink>; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Lim+D%22">Lim D</searchLink>; Birmingham Women's and Children's Foundation Trust, UK.<br /><searchLink fieldCode="AU" term="%22McMullan+D%22">McMullan D</searchLink>; Birmingham Women's and Children's Foundation Trust, UK.<br /><searchLink fieldCode="AU" term="%22Wright+M%22">Wright M</searchLink>; Newcastle Hospitals NHS Foundation Trust, UK.<br /><searchLink fieldCode="AU" term="%22Temple+IK%22">Temple IK</searchLink>; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Davies+JH%22">Davies JH</searchLink>; Faculty of Medicine, University of Southampton, UK.; University Hospital Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Mackay+DJG%22">Mackay DJG</searchLink>; Faculty of Medicine, University of Southampton, UK. – 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 Feb; Vol. 194 (2), pp. 383-388. <i>Date of Electronic Publication: </i>2023 Oct 18. – 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="%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=37850521 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.63448 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 383 Titles: – TitleFull: A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Alhendi ASN – PersonEntity: Name: NameFull: Gazdagh G – PersonEntity: Name: NameFull: Lim D – PersonEntity: Name: NameFull: McMullan D – PersonEntity: Name: NameFull: Wright M – PersonEntity: Name: NameFull: Temple IK – PersonEntity: Name: NameFull: Davies JH – PersonEntity: Name: NameFull: Mackay DJG IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2024 Feb Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 194 – Type: issue Value: 2 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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