Associated Papers
Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.
Jeffery N et al.
Bmj Open Diabetes Research & Care, 2024
39542526 (PubMed )
Supplement: bmjdrc-12-6-s001.pdf
First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.
Yoshiji S et al.
Journal of the Endocrine Society, 2022
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Ellard S et al.
Diabetologia, 2013
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