First Japanese Family With <i>PDX1</i>-MODY (MODY4): A Novel <i>PDX1</i> Frameshift Mutation, Clinical Characteristics, and Implications

Abstract

We identified the first Japanese family with <i>PDX1</i>-MODY. The similarities and differences found among the cases highlight the wide phenotypic spectrum of <i>PDX1</i>-MODY.