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Article

FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.

Pancreas - 1 Jul 2016

Seo Aaron, Walsh Tom, Lee Ming K, Ho Phoenix A, Hsu Evelyn Kanyu, Sidbury Robert, King Mary-Claire, Shimamura Akiko

Abstract excerpt

OBJECTIVES: Few genetic causes of exocrine pancreatic dysfunction have been described to date. We identified a family with multiple affected members manifesting exocrine pancreatic dysfunction. Additional associated features included facial rash, sparse hair, hypohidrosis, and swelling of the extremities. The transmission pattern of these clinical features was consistent with an autosomal dominant mode of...

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PMID: 26495788
DOI: 10.1097/MPA.0000000000000529
PMCID: PMC4841754

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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