Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
<p>Abstract</p> <p>Background</p> <p>Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in <it>SMARCAL1</it> (SWI/SNF-related, matrix-associated, actin-depe...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2012-09-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://www.ojrd.com/content/7/1/70 |