Article
Impact of hereditary pancreatitis on patients and their families.
Journal of genetic counseling - 1 Dec 2020
Shelton Celeste A, Grubs Robin E, Umapathy Chandraprakash, Yadav Dhiraj, Whitcomb David C
Abstract excerpt
Hereditary pancreatitis (HP), a highly penetrant (~80%) autosomal dominant disease associated with PRSS1 variants, causes acute pancreatitis in childhood and chronic pancreatitis by early adulthood. Other clinical features include pain, diabetes, and risk of pancreatic cancer. HP kindreds were prospectively recruited from 1995 to 2015. At enrollment, study participants completed medical and family history...
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