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Article

Identification of a novel leptin receptor (LEPR) variant and proof of functional relevance directing treatment decisions in patients with morbid obesity.

Metabolism: clinical and experimental - 1 Mar 2021

Voigtmann Franziska, Wolf Philipp, Landgraf Kathrin, Stein Robert, Kratzsch Jürgen, Schmitz Samuel, Abou Jamra Rami, Blüher Matthias, Meiler Jens, Beck-Sickinger Annette G, Kiess Wieland, Körner Antje

Abstract excerpt

BACKGROUND: Deficiency in the leptin-leptin receptor (LEPR) axis leads to severe, and potentially treatable, obesity in humans. To guide clinical decision-making, the functional relevance of variants in the LEPR gene needs to be carefully investigated. CASES AND METHODS: We characterized the functional impact of LEPR variants identified in two patients with severe early-onset obesity (1: compound heterozygous for...

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Identifiers

PMID: 33221380
DOI: 10.1016/j.metabol.2020.154438

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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