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Article

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

American journal of medical genetics. Part A - 1 Dec 2008

Elting Mariet, Kariminejad Ariana, de Sonnaville Marie-Louise, Ottenkamp Jaap, Bauhuber Susanne, Bozorgmehr Bita, Zenker Martin, Cobben Jan M

Abstract excerpt

We report on two apparently unrelated girls with Johanson-Blizzard syndrome (JBS), in both children caused by a homozygous IVS26+5G>A mutation in the UBR1 gene. In both cases the parents are consanguineous and more sibs are affected. The somewhat mild phenotype (with no or slight mental retardati...

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Source

Identifiers

PMID: 19006206
DOI: 10.1002/ajmg.a.32566

Genes

UBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19006206-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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