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Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risksResearch in context

Summary: Background: Monogenic lipodystrophy is a metabolic disorder that predisposes to diabetes and cardiovascular disease, yet its true prevalence and clinical spectrum remain uncertain. We used a genotype-first approach with an aim to estimate the prevalence, phenotypic spectrum, risk of cardio...

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I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Luke N. Sharp, Kevin Colclough, Jacques Murray Leech, Amy V. Evans, Andrew T. Hattersley, Michael N. Weedon, Rebecca J. Brown, Kashyap A. Patel
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Elsevier 2026-05-01
Rangatū:EBioMedicine
Ngā marau:
Urunga tuihono:http://www.sciencedirect.com/science/article/pii/S2352396426001374
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