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aortic aneurysm familial thoracic type 6

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: - associated with defects in ACTA2

General

familial aortic aneurysm

Database Correlations

OMIM 611788

References

  1. UniProt :accession P62736
  2. OMIM :accession 611788