Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks.
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| Title: | Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks. |
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| Authors: | Sharp LN; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Colclough K; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK; Exeter Genomic Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Murray Leech J; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Evans AV; Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, London, UK., Hattersley AT; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Weedon MN; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Brown RJ; National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Health, Bethesda, USA., Patel KA; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. Electronic address: K.a.patel@exeter.ac.uk. |
| Source: | EBioMedicine [EBioMedicine] 2026 May; Vol. 127, pp. 106255. Date of Electronic Publication: 2026 Apr 18. |
| Publication Type: | Journal Article; Observational Study |
| Journal Info: | Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42001615 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Sharp+LN%22">Sharp LN</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Colclough+K%22">Colclough K</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK; Exeter Genomic Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Murray+Leech+J%22">Murray Leech J</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Evans+AV%22">Evans AV</searchLink>; Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Hattersley+AT%22">Hattersley AT</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Weedon+MN%22">Weedon MN</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Brown+RJ%22">Brown RJ</searchLink>; National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Health, Bethesda, USA.<br /><searchLink fieldCode="AU" term="%22Patel+KA%22">Patel KA</searchLink>; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. Electronic address: K.a.patel@exeter.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101647039%22">EBioMedicine</searchLink> [EBioMedicine] 2026 May; Vol. 127, pp. 106255. <i>Date of Electronic Publication: </i>2026 Apr 18. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Observational Study – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+B%2EV%22">Elsevier B.V </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101647039 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2352-3964 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223523964%22">23523964 </searchLink><i>NLM ISO Abbreviation: </i>EBioMedicine <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42001615 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ebiom.2026.106255 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 106255 Titles: – TitleFull: Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sharp LN – PersonEntity: Name: NameFull: Colclough K – PersonEntity: Name: NameFull: Murray Leech J – PersonEntity: Name: NameFull: Evans AV – PersonEntity: Name: NameFull: Hattersley AT – PersonEntity: Name: NameFull: Weedon MN – PersonEntity: Name: NameFull: Brown RJ – PersonEntity: Name: NameFull: Patel KA IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2026 May Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2352-3964 Numbering: – Type: volume Value: 127 Titles: – TitleFull: EBioMedicine Type: main |
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