Associated Papers
Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity.
Vitellius G et al.
European Journal of Endocrinology, 2025
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
38956946 (PubMed )
Supplement: supplement_1.pdf
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Le Collen L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases.
Graves LE et al.
Journal of Paediatrics and Child Health, 2021
Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.
Gregoric N et al.
Frontiers in Endocrinology, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
Çetinkaya S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus.
Aslan IR et al.
International Journal of Obesity (2005), 2014
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