Clinical utility gene card for: Johanson–Blizzard syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201365.pdf
Reference10 articles.
1. Zenker M, Mayerle J, Lerch MM et al: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 2005; 37: 1345–1350.
2. Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS : Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. Am J Med Genet A 2008; 146A: 1875–1879.
3. Elting M, Kariminejad A, de Sonnaville ML et al: Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. Am J Med Genet A 2008; 146A: 3058–3061.
4. Alkhouri N, Kaplan B, Kay M et al: Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. World J Gastroenterol 2008; 14: 6863–6866.
5. Fallahi GH, Sabbaghian M, Khalili M, Parvaneh N, Zenker M, Rezaei N : Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. Eur J Pediatr 2011; 170: 233–235.
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review;Cureus;2024-03-11
2. Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum;Human Mutation;2014-04-09
3. Johanson–Blizzard syndrome: Hepatic and hematological features with novel genotype;Indian Journal of Gastroenterology;2013-09-20
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