Abstract.
Pancreatic agenesis is a rare condition, of which only a limited number of cases have been described. One recent paper reported a homozygous mutation in the pancreatic duodenal homeobox gene 1 (PDX-1) in a child with pancreatic agenesis. We report a 6-year-old boy with pancreatic agenesis, treated medically, without abnormalities in the PDX-1 gene coding sequence and with normal gastroduodenal endocrine cell distribution. Genes other than PDX-1 also appear to be involved in human pancreatic agenesis.
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Verwest, A., Poelman, M., Dinjens, W. et al. Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. Virchows Arch 437, 680–684 (2000). https://doi.org/10.1007/s004280000305
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DOI: https://doi.org/10.1007/s004280000305