A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
July 2022
in “
The Journal of Clinical Endocrinology & Metabolism
”
New to Hydrocortisone? There is a guide in the encyclopedia. Read the guide → Studysummary This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
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