| CINCA Syndrome. | |
MedLine Citation:
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PMID: 18175851 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement. We report a 7-year-old girl with CINCA syndrome with an infrequent manifestation of retinal vasculitis and a relative paucity of neurological signs. She had a de novo F309S mutation in exon 3 of CIAS1 gene on chromosome 1. This is the first report of this entity from India. |
Authors:
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Chetna Khemani; Raju Khubchandani |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Indian pediatrics Volume: 44 ISSN: 0019-6061 ISO Abbreviation: Indian Pediatr Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2008-01-07 Completed Date: 2008-02-27 Revised Date: 2009-11-03 |
Medline Journal Info:
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Nlm Unique ID: 2985062R Medline TA: Indian Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 933-6 Citation Subset: IM |
Affiliation:
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Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Science, Lucknow 226 014, U.P., India. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Age Factors Arthritis / drug therapy*, genetics Azathioprine / therapeutic use Carrier Proteins / genetics* Child Chronic Disease Erythema / drug therapy*, genetics Female Fever / drug therapy*, genetics Humans Mutation Nervous System Diseases / drug therapy*, genetics Prednisolone / therapeutic use Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/NLRP3 protein, human; 446-86-6/Azathioprine; 50-24-8/Prednisolone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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