Document Detail


Oculo-cerebro-renal syndrome (Lowe's syndrome).
MedLine Citation:
PMID:  1843129     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heredity are discussed.
Authors:
Y Chen; G Pang
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Yan ke xue bao = Eye science / "Yan ke xue bao" bian ji bu     Volume:  7     ISSN:  1000-4432     ISO Abbreviation:  Yan Ke Xue Bao     Publication Date:  1991 Mar 
Date Detail:
Created Date:  1993-02-11     Completed Date:  1993-02-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8605666     Medline TA:  Yan Ke Xue Bao     Country:  CHINA    
Other Details:
Languages:  eng     Pagination:  40-2, 46     Citation Subset:  IM    
Affiliation:
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Humans
Infant
Male
Oculocerebrorenal Syndrome* / diagnosis,  genetics,  surgery
Pedigree

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