Associated Papers
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
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.
van der Valk ES et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
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
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf
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
Bioinactive ACTH causing glucocorticoid deficiency.
Samuels ME et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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