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aortic aneurysm familial thoracic type 3
Pathology:
- degenerative changes in the aortic wall
- characteristic histologic appearance of 'medial necrosis'
a) degeneration & fragmentation of elastic fibers
b) loss of smooth muscle cells
c) accumulation of basophilic ground substance
Genetics:
- autosomal dominant with reduced penetrance & variable expression
- associated with defects in TGFBR2
General
familial aortic aneurysm
Database Correlations
OMIM 610380
References
UniProt :accession P36897