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Novel homozygous leptin receptor mutation in an infant with monogenic obesity

Pediatric endocrinology, diabetes, and metabolism, Vol. 29, Issue 2, Pages 118-123, 2023

PMID: 37728464

Monogenic obesity can be caused by a mutation in one of the single genes involved in hunger and satiety. The most common mutations affect melanocortin 4 (MC4) followed by the leptin gene and its receptor. Leptin receptor (LEPR) gene mutation is an extremely rare endocrine disease characterized by early-onset obesity, hyperphagia in addition to pituitary hormone deficiency, and metabolic abnormalities.

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