Document Detail

A new patient with Lowry-Wood syndrome with mild phenotype.
MedLine Citation:
PMID:  12605445     Owner:  NLM     Status:  MEDLINE    
Lowry-Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital nystagmus. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the cartilage oligomeric matrix protein (COMP) gene was performed and failed to find mutations.
Nicola Brunetti-Pierri; Daniele De Brasi; Shiro Ikegawa; Giovanni Camera; Generoso Andria; Gianfranco Sebastio
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  118A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Apr 
Date Detail:
Created Date:  2003-02-26     Completed Date:  2003-10-23     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  68-70     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Department of Pediatrics, Federico II University, Naples, Italy.
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MeSH Terms
Abnormalities, Multiple / genetics,  physiopathology*
Child, Preschool
DNA Mutational Analysis
Extracellular Matrix Proteins / genetics
Genes, Recessive
Glycoproteins / genetics
Infant, Newborn
Reg. No./Substance:
0/Extracellular Matrix Proteins; 0/Glycoproteins; 0/cartilage matrix protein

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