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Article

Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.

JOP : Journal of the pancreas - 28 Jul 2014

Ellery Kate M, Erdman Steven H

Abstract excerpt

CONTEXT: Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae, ectodermal abnormalities, exocrine pancreatic insufficiency and early growth failure. Most patients are diagnosed by clinical criteria prenatally or in early infancy. Nonsense, frame shift and splice-site mutations of the ubiquitin ligase gene (UBR1) lead to early loss of acinar cells in...

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Source

Identifiers

PMID: 25076350
DOI: 10.6092/1590-8577/2409

Genes

UBR1

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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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