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Complete loss of PAX4 causes transient neonatal diabetes in humans

2 Jul 2025

Abstract excerpt

OBJECTIVE: Gene discovery studies in individuals with diabetes diagnosed within 6 months of life (neonatal diabetes, NDM) can provide unique insights into the development and function of human pancreatic beta-cells. METHODS: We performed genome sequencing in a cohort of 43 consanguineous individuals with NDM in whom all the known genetic causes had previously been excluded. We used quantitative PCR and...

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PMID: 40614820
DOI: 10.1016/j.molmet.2025.102201

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