| Winchester syndrome: the progression of radiological findings over a 23-year period. | |
| | |
MedLine Citation:
|
PMID: 20865259 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Winchester syndrome (WS) is a rare autosomal recessive syndrome resulting in multicentric osteolysis. Only a few cases of WS have been described in the literature worldwide. It has recently been shown to be caused by mutation in the gene encoding matrix metalloproteinase-2 (MMP2). We report a patient affected by WS with a proven mutation of the MMP2 gene and describe the progression of radiological findings over a 23-year period. To our knowledge there is no comparable article concerning the WS in the literature. |
| | |
Authors:
|
Radovan Vanatka; Cécile Rouzier; Jean Claude Lambert; Carole Leroux; Alain Coussement |
Related Documents
:
|
9726049 - Multiple synchronous lung cancers and atypical adenomatous hyperplasia in li-fraumeni s... 18174559 - Rett syndrome: prevalence among chinese and a comparison of mecp2 mutations of classic ... 18440889 - P35s mutation in the nog gene associated with teunissen-cremers syndrome and features o... 15992829 - Dejerine-sottas syndrome and vestibular loss due to a point mutation in the pmp22 gene. 19066959 - Q289p mutation in the fgfr2 gene: first report in a patient with type 1 pfeiffer syndrome. 15034579 - A previously unidentified mecp2 open reading frame defines a new protein isoform releva... 8544069 - Five new species of acanthobothrium van beneden, 1849 (eucestoda: tetraphyllidea: oncho... 12825879 - Intractable pruritus associated with insulinoma in the absence of multiple endocrine ne... 16798249 - Abdominal compartment syndrome: a rare complication of plication of the diaphragm. |
Publication Detail:
|
Type: Journal Article Date: 2010-09-24 |
Journal Detail:
|
Title: Skeletal radiology Volume: 40 ISSN: 1432-2161 ISO Abbreviation: Skeletal Radiol. Publication Date: 2011 Mar |
Date Detail:
|
Created Date: 2011-02-02 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7701953 Medline TA: Skeletal Radiol Country: Germany |
Other Details:
|
Languages: eng Pagination: 347-51 Citation Subset: IM |
Affiliation:
|
Department of Radiology, University Hospital Bratislava, Antolska 11, 851 07, Bratislava, Slovak Republic, vanatka@yahoo.com. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Comparative studies on the metabolism of linoleic acid by rumen bacteria, protozoa, and their mixtur...
Next Document: Reverse total shoulder arthroplasty-from the most to the least common complication.