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Article

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

Scientific reports - 16 Nov 2024

Rajan Remya, Chapla Aaron, Johnson Jabasteen, Varghese Deny, Asha H S, Jebasingh Felix, Kapoor Nitin, Paul Thomas V, Thomas Nihal

Abstract excerpt

In this study, we analysed the mutation spectrum in subjects with suspected lipodystrophy using a targeted Next-generation sequencing (NGS) approach. Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24, INSR) and the variants identified were confirmed through Sanger sequencing. The clinical and biochemical parameters were compared among the mutation positive and...

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Identifiers

PMID: 39550450
DOI: 10.1038/s41598-024-79516-7
PMCID: PMC11569162

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