Article
Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1.
Journal of neurosurgery. Pediatrics - 1 Jun 2016
Phi Ji Hoon, Choi Jung Won, Seong Moon-Woo, Kim Tackeun, Moon Youn Joo, Lee Joongyub, Koh Eun Jung, Ryu Seul Ki, Kang Tae Hee, Bang Jae Seung, Oh Chang Wan, Park Sung Sup, Lee Ji Yeoun, Wang Kyu-Chang, Kim Seung-Ki
Abstract excerpt
OBJECTIVE In a minority of patients with neurofibromatosis Type 1 (NF-1), cerebral vasculopathy reminiscent of moyamoya disease develops. This phenomenon is called moyamoya syndrome (MMS), but there are no known risk factors for the prediction of MMS in NF-1 patients. Polymorphism of the RNF213 gene has exhibited strong associations with familial and sporadic moyamoya disease and other cerebral vasculopathies....
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