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
Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
Ferreira F et al.
Journal of Medical Case Reports, 2013
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