| Eponym : Johanson-Blizzard syndrome. | |
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MedLine Citation:
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PMID: 20556422 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay. Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome. |
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Authors:
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Nima Rezaei; Mozhgan Sabbaghian; Zhifeng Liu; Martin Zenker |
Publication Detail:
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Type: Journal Article Date: 2010-06-17 |
Journal Detail:
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Title: European journal of pediatrics Volume: 170 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 179-83 Citation Subset: IM |
Affiliation:
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Research Group for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran, nima_rezaei@farabi.tums.ac.ir. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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