Investigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01369-x.pdf
Reference29 articles.
1. Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, et al. The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01320-0.
2. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011;56:34–40.
3. Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PloS One. 2011;6:e22542.
4. Zhang Q, Liu Y, Zhang D, Wang R, Zhang Y, Wang S, et al. RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance. J Neurosurg. 2017;126:1106–13.
5. Koizumi A, Kobayashi H, Hitomi T, Harada KH, Habu T, Youssefian S. A new horizon of moyamoya disease and associated health risks explored through RNF213. Environ Health Prev Med. 2016;21:55–70.
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