Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation.

Abstract excerpt

CONTEXT: Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations resulting in high penetrance (about 80%) autosomal dominant disorder that is usually reported in North America, Northern Europe and Northeast Asia, but not South America, Africa or India. CASE REPORT: Here we report a kindred from Venezuela, South America with the PRSS1 R122H variant. Only the proband, an 11-year old boy...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Trypsin
• Share to Venezuela
• Share to Arginine