Condition: Johanson-Blizzard syndrome


rs1388367359 in UBR1 gene and Johanson-Blizzard syndrome PMID 24599544 2014 Mutations in the human UBR1 gene and the associated phenotypic spectrum.

PMID 16311597 2005 Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

PMID 22072859 2011 Johanson-Blizzard syndrome.

PMID 21931868 2011 Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

PMID 26149651 2015 Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.