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Biallelic <i>PDX1</i> (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

16 Jan 2013

Abstract excerpt

AIMS: Recessive PDX1 (IPF1) mutations are a rare cause of pancreatic agenesis, with three cases reported worldwide. A recent report described two cousins with a homozygous hypomorphic PDX1 mutation causing permanent neonatal diabetes with subclinical exocrine insufficiency. The aim of our study was to investigate the possibility of hypomorphic PDX1 mutations in a large cohort of patients with permanent neonatal...

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PMID: 23320570
DOI: 10.1111/dme.12122

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