Yield of genetic evaluation in non-syndromic pediatric moyamoya patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00381-023-06167-w.pdf
Reference14 articles.
1. Mertens R, Graupera M, Gerhardt H, Bersano A, Tournier-Lasserve E, Mensah MA et al (2022) The genetic basis of moyamoya disease. Transl Stroke Res 13(1):25–45
2. Guey S, Tournier-Lasserve E, Herve D, Kossorotoff M (2015) Moyamoya disease and syndromes: from genetics to clinical management. Appl Clin Genet 8:49–68
3. Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T et al (2011) Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS ONE 6(7):e22542
4. Kobayashi H, Kabata R, Kinoshita H, Morimoto T, Ono K, Takeda M et al (2018) Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice. Pulm Circ 8(3):2045894018778155
5. Kobayashi H, Brozman M, Kyselova K, Viszlayova D, Morimoto T, Roubec M et al (2016) RNF213 rare variants in Slovakian and Czech moyamoya disease patients. PLoS ONE 11(10):e0164759
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