ArticleFrontiers in genetics2025
Case Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Acute Pancreatitis as an Initial Presentation of Hereditary Chronic Calcific Pancreatitis with Pancreatic Duct Stones: A Case Report.Clinical medicine insights. Case reports · 2026Article
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7 authors.
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Abstract
Hereditary pancreatitis (HP) is a rare genetic disorder of the pancreas. We report a case of a 20-year-old woman presenting with classic features of lean diabetes mellitus, chronic diarrhea, and diabetic ketoacidosis but notably without abdominal pain. Imaging revealed pancreatic calcification. Genetic testing identified pathogenic compound mutations in SPINK1 (c.194+2T>C) and PRSS1 (c.623G>C), confirming a diagnosis of HP. Family screening showed her mother carried a homozygous
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