Associated Papers
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
36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1
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
Single Nucleotide Polymorphisms in the Melanocortin His-Phe-Arg-Trp Sequences Decrease Tetrapeptide Potency and Efficacy.
Winget MD et al.
Acs Medicinal Chemistry Letters, 2020
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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