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Pancreatitis Due to De Novo PRSS1 Pathogenic Mutations: The Ambry Genetics Experience

Session:
#17
Date:
Thursday, Jul 27, 2017 4:45pm – 5:30pm
Conference:
PancreasFest 2017
Authors:
Brissa Martin, Jing Wang, Melissa Samons
  • PRSS1-related HP due to de novo alterations is rare; we identified this in less than 0.05% of cases (2/9,000 samples).
  • Parental testing and genetic counseling should be considered for accurate risk assessment and appropriate clinical follow-up.
Poster Abstract