Johanson–Blizzard syndrome: Hepatic and hematological features with novel genotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology
Link
http://link.springer.com/content/pdf/10.1007/s12664-013-0391-5.pdf
Reference13 articles.
1. Johanson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr. 1971;79:982–7.
2. Zenker M, Mayerle J, Lerch MM. Deficiency of UBR1, an ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson–Blizzard syndrome). Nat Genet. 2005;37:1345–50.
3. Hwang CS, Sukalo M, Batygin O. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson–Blizzard syndrome. PLoS One. 2011;6:e24925.
4. Kulkarni ML, Shetty SK, Kallambella KS, Kulkarni PM. Johanson–blizzard syndrome. Indian J Pediatr. 2004;71:1127–9.
5. Sudharshan R, Annigeri RG, Shettar SS. Johansson blizzard syndrome: a rare case report. J Indian Acad Oral Med Radiol. 2010;22:225–8.
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1. Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review;Cureus;2024-03-11
2. Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients;Pancreas;2018-11
3. Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum;Human Mutation;2014-04-09
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