First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications
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DOI: 10.1210/jendso/bvab159
Abstract: Abstract Context The PDX1 gene encodes pancreatic and duodenal homeobox, a critical transcription factor for pancreatic β-cell differentiation and maintenance of mature β-cells. Heterozygous loss-of-function mutations cause PDX1-MODY (MODY4). Case Description Our patient is an… read more here.
Keywords: pdx1; mody mody4; pdx1 mody; frameshift mutation ... See more keywords