Article

Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans

2025-04-03

Abstract excerpt

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. We describe the identification of homozygous PAX4 loss-of-function variants in 2 unrelated individuals with NDM: a p.(Arg126*) stop-gain variant and a c.-352_104del deletion affecting the first 4 PAX4 exons. We c...

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Literature Corpus work: dc4999cb-cf20-57d2-ad2a-d698b0af2c16
DOI: 10.1101/2025.04.01.25324926

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