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Article

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Gene - 1 Oct 2015

Atik Tahir, Karakoyun Miray, Sukalo Maja, Zenker Martin, Ozkinay Ferda, Aydoğdu Sema

Abstract excerpt

Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation. Mutations in UBR1 gene (MIM *605981) are considered to be responsible for the syndrome. Here, we report a 3 year-old mentally normal JBS girl. The patient presented with exocrine pancreatic...

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Source

Identifiers

PMID: 26149651
DOI: 10.1016/j.gene.2015.06.082

Genes

UBR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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