Moyamoya disease
Definition:
References:
-
[1]. Dominique Hervé, et al. Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. Am J Hum Genet. 2014 Mar 6;94(3):385-94. [Content Brief]
[2]. Dong-Chuan Guo, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 May;84(5):617-27. [Content Brief]
[3]. Fumiaki Kamada, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011 Jan;56(1):34-40. [Content Brief]
[4]. M Komiyama, et al. Moyamoya Disease is a Progressive Occlusive Arteriopathy of the Primitive Internal Carotid Artery. Interv Neuroradiol. 2003 Mar 30;9(1):39-45. [Content Brief]
[5]. S Miyatake, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology. 2012 Mar 13;78(11):803-10. [Content Brief]