pancreatic agenesis—congenital

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pancreatic agenesis—congenital2016-11-27T16:04:34+00:00

pancreatic agenesis—congenital 


Definition An autosomal recessive disorder (OMIM:260370) characterised by endocrine and exocrine pancreatic insufficiency and neonatal onset of insulin-dependent diabetes.

Molecular pathology A frameshift mutation in PDX1, which encodes a transcription activator that regulates tissue-specific expression of multiple genes, including that for insulin promoter factor-1, cause pancreatic agenesis—congenital. 

Synonyms PAGEN, pancreatic hypoplasia—congenital


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