Document Detail


Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.
MedLine Citation:
PMID:  18018428     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.
Authors:
R Mathys; H Deconinck; K Keymolen; A Jansen; H Van Esch
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Bulletin de la Société belge d'ophtalmologie     Volume:  -     ISSN:  0081-0746     ISO Abbreviation:  Bull Soc Belge Ophtalmol     Publication Date:  2007  
Date Detail:
Created Date:  2007-11-16     Completed Date:  2007-12-13     Revised Date:  2012-06-18    
Medline Journal Info:
Nlm Unique ID:  7505353     Medline TA:  Bull Soc Belge Ophtalmol     Country:  Belgium    
Other Details:
Languages:  eng     Pagination:  49-53     Citation Subset:  IM    
Affiliation:
Department of Paediatric Ophthalmology, UZ Brussel, Brussels, Belgium. renske.mathys@uzbrussel.be
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics*
Cataract / congenital*
Chromosomes, Human, X*
Fatal Outcome
Gene Deletion*
Humans
Infant
Male
Microphthalmos / diagnosis,  genetics*
Nuclear Proteins / genetics
Protein-Serine-Threonine Kinases / genetics
Syndrome
Tetralogy of Fallot / diagnosis,  genetics
Chemical
Reg. No./Substance:
0/NHS protein, human; 0/Nuclear Proteins; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.22/CDKL5 protein, human

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


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