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Article

Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.

BMJ open diabetes research & care - 14 Nov 2024

Jeffery Nicola, Al Nimri Omar, Houghton Jayne A L, Globa Evgenia, Wakeling Matthew N, Flanagan Sarah E, Hattersley Andrew T, Patel Kashyap Amratlal, De Franco Elisa

Abstract excerpt

INTRODUCTION: Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine pancreatic insufficiency, with 17 cases reported in the literature. RESEARCH DESIGN AND METHODS: To determine the phenotypic variability caused by this rare genetic aetiology, we investigated 19 individuals with NDM resulting from biallelic disease-causing PDX1 variants. RESULTS: Of...

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Identifiers

PMID: 39542526
DOI: 10.1136/bmjdrc-2024-004439
PMCID: PMC11575358

Genes

PDX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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