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 |
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