Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant inRNF213
Author:
Affiliation:
1. Department of Pediatrics; Dokkyo Medical University Koshigaya Hospital; Koshigaya-shi Saitama Japan
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12689/fullpdf
Reference10 articles.
1. Cerebrovascular “Moyamoya” disease. Disease showing abnormal net-like vessels in base of brain;Suzuki;Arch. Neurol.,1969
2. Moyamoya disease: Current concepts and future perspectives;Kuroda;Lancet Neurol.,2008
3. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene;Kamada;J. Hum. Genet.,2011
4. Homozygous c.14576GA variant of RNF213 predicts early-onset and severe form of moyamoya disease;Miyatake;Neurology,2012
5. Moyamoya disease and moyamoya syndrome;Scott;N. Engl. J. Med.,2009
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1. Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213;British Journal of Neurosurgery;2022-06-01
2. Enrichment of rare variants in E3 ubiquitin ligase genes in Early onset Parkinson's disease;Neurobiology of Aging;2022-01
3. First Report: Rare RNF213 Variant Associated with Familial Moyamoya Disease in an African American Family;Journal of Stroke and Cerebrovascular Diseases;2021-12
4. History of Disease Entity and Diagnosis Criteria;Moyamoya Disease: Current Knowledge and Future Perspectives;2021
5. Role of Ring Finger Protein 213 in Moyamoya Disease;Chinese Medical Journal;2016-10-20
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