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hrp0095p1-474 | Fat, Metabolism and Obesity | ESPE2022

A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants

Besci Özge , Nur Fırat Sevde , Özen Samim , Çetinkaya Semra , Akın Leyla , Kör Yılmaz , Pekkolay Zafer , Özalkak Şervan , Özsu Elif , Savaş Erdeve Şenay , Poyrazoğlu Şükran , Berberoğlu Merih , Aydın Murat , Omma Tülay , Akıncı Barış , Demir Korcan , Arioglu Oral Elif

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...

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A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants

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