Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity

Severe childhood obesity can be caused by pathogenic variants in several genes involved in monogenic and syndromic obesity. Recently, heterozygous variants in pleckstrin homology domain interacting protein (PHIP) have been identified in patients with obesity as part of Chung-Jansen syndrome. The ind...

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Veröffentlicht in:Hormone research in paediatrics 2024-10, p.1-8
Hauptverfasser: Loid, Petra, Vuorela, Nina, Aaltonen, Kirsimari, Kuittinen, Juha, Mäkitie, Outi
Format: Artikel
Sprache:eng
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