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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

Clinical obesity - 1 Aug 2024

Kleinendorst Lotte, Abawi Ozair, Vos Niels, van der Valk Eline S, Maas Saskia M, Morgan Angela T, Hildebrand Michael S, Da Silva Jorge D, Florijn Ralph J, Lauffer Peter, Visser Jenny A, van Rossum Elisabeth F C, van den Akker Erica L T, van Haelst Mieke M

Abstract excerpt

Most patients with GNB1 encephalopathy have developmental delay and/or intellectual disability, brain anomalies and seizures. Recently, two cases with GNB1 encephalopathy caused by haploinsufficiency have been reported that also show a Prader-Willi-like phenotype of childhood hypotonia and severe obesity. Here we present three new cases from our expert centre for genetic obesity in which GNB1 truncating and...

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Identifiers

PMID: 38596856
DOI: 10.1111/cob.12661

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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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