Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213
Author:
Affiliation:
1. Outpatient Department of Pediatrics, The First Hospital of Jilin University, Changchun, P.R. China
Publisher
Informa UK Limited
Subject
Neurology (clinical),General Medicine,Surgery
Link
https://www.tandfonline.com/doi/pdf/10.1080/02688697.2021.1916433
Reference16 articles.
1. Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells
2. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
3. Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development
4. P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure
5. 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
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