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Letter to the Journal

Iris Flocculi as an Ocular Marker of ACTA2 Mutation in Familial Thoracic Aortic Aneurysms and Dissections

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Pages 86-88 | Received 10 Jun 2013, Accepted 03 Aug 2013, Published online: 10 Sep 2013

References

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  • Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet 2008;9:283–302
  • Bixler D, Antley RM. Familial aortic dissection with iris anomalies – a new connective tissue disease syndrome? Birth Defects Orig Artic Ser 1976;12:229–234
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  • Hashida N, Ohguro N, Morimoto Y, et al. Ultrastructural appearance of iris flocculi associated with a thoracic aortic aneurysm and dissections. Br J Ophthalmol 2009;93:1409–1410
  • Morisaki H, Akutsu K, Ogino H, et al. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Hum Mutat 2009;30:1406–1411
  • Disabella E, Grasso M, Gambarin FI, et al. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). Heart 2011;97:321–326
  • Moller HU, Fledelius HC, Milewicz DM, et al. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. Br J Ophthalmol 2012;96:1227–1231

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