A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.

Iuliia V Viakhireva Natalia Kalinchenko Evgeny V VasilyevGalina V ChistousovaAlexandra Yu Filatova Andrey A Marakhonov Petr M Rubtsov Mikhail Yurevich Skoblov Anatoly Tiulpakov

Published in: The Journal of clinical endocrinology and metabolism (2022)

This report presents a new molecular mechanism of POMC deficiency and contributes to the information on phenotypic variability in patients with this disorder.

Keyphrases

replacement therapy
health information
social media