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elastin

7q11.23

 

Pathology

-  frameshift mutations in the elastin gene in autosomal dominant cutis laxa
-  mutations in supravalvular aortic stenosis

References

-  Brooke BS, Bayes-Genis A, Li DY. New insights into elastin and vascular disease. Trends Cardiovasc Med. 2003 Jul;13(5):176-81. PMID: #12837579#


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