Document Detail


Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
MedLine Citation:
PMID:  17062485     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: Lesch-Nyhan syndrome is a devastating sex-linked recessive disorder resulting from almost complete deficiency of the activity of HPRT. This report highlights the unusual AAS in a boy with LNS presenting recurrent consciousness change. The mutation described herein is a hitherto unreported splicing error leading to exon 6 skipping of the HPRT gene.
Authors:
Jia-Woei Hou
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  95     ISSN:  0803-5253     ISO Abbreviation:  Acta Paediatr.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-25     Completed Date:  2007-02-22     Revised Date:  2014-07-29    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  Norway    
Other Details:
Languages:  eng     Pagination:  1500-4     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Atlanto-Axial Joint*
Child
Consciousness Disorders / etiology*
Dislocations / complications*
Humans
Lesch-Nyhan Syndrome / complications*,  genetics*
Male
Mutation
Sequence Analysis, DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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