Article
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.
European journal of medical genetics - 1 May 2021
Abreu Gabriella de M, Tarantino Roberta M, da Fonseca Ana Carolina P, de Souza Ritiele B, Soares Camila A P D, Cabello Pedro H, Rodacki Melanie, Zajdenverg Lenita, Zembrzuski Verônica M, Campos Junior Mário
Abstract excerpt
Maturity-Onset Diabetes of the Young type 4 is a rare form of diabetes mellitus, caused by mutations in the PDX1 gene. However, only a few mutations in this gene have been associated as a cause of monogenic diabetes up to date. It makes difficult to create a clinical manifestation profile of this disease and, consequently, to improve the therapeutic management for these patients. Here we report a normal weight...
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