| Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. | |
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MedLine Citation:
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PMID: 20556423 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Johanson-Blizzard syndrome is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus. Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome. It should be acknowledged that the combination of exocrine pancreatic insufficiency and nasal wing hypo-aplasia is pathognomonic for this syndrome. Prompt diagnosis and exact monitoring of the patients with JBS are required to avoid further complications. |
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Authors:
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Gholam Hossein Fallahi; Mozhgan Sabbaghian; Manijeh Khalili; Nima Parvaneh; Martin Zenker; Nima Rezaei |
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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: 233-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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